Newborn Screening Materials and Resources: Disorder Fact Sheets - Minnesota Dept. of Health

Updated Wednesday, 04-Sep-2019 16:41:11 CDT

Blood Spot Disorders: Information & Resources

Blood spot disorders screened in Minnesota are listed alphabetically below. Clicking on the name of a disorder in the list will bring you to a table with information about that disorder.

We provide resources that include fact sheets with disorder-specific information and next steps for both families and providers following an abnormal newborn screening result. Additionally, specialist contact lists are provided for specific cases where MDH recommends the primary care provider consult with a specialist for further follow-up recommendations.

If you are looking for information about the other components of newborn screening, please visit our webpages about pulse oximetry screening and hearing screening.

Click on the letter to go to the disorder you are looking for:
A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z  Numerical


A

Arginemia (ARG)

AKA: Arginase deficiency

FINDING
The amino acid, arginine, is elevated

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down protein from food and remove the waste product (ammonia) from the body is not working correctly.

EARLY SIGNS
There are usually no symptoms in the newborn period. If left untreated, it can cause lack of energy, poor feeding and growth, muscle stiffness, intellectual disabilities, and seizures.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: ARG (PDF)
Provider - Positive result: ARG (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Argininosuccinic Acidemia (ASA)

AKA: Argininosucinate lyase (AKA) deficiency

FINDING
The amino acid, argininosuccinic acid, is elevated

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to remove a waste product called ammonia from the body is not working correctly.

EARLY SIGNS
Symptoms can begin in the newborn period. If left untreated, it can cause lack of energy, poor feeding, unusual body movements, seizures, brain damage, and coma.

TREATMENT
Consists of a special diet and medications.

DISORDERGROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: ASA (PDF)
Provider - Positive result: ASA (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

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B

Beta-ketothiolase deficiency (BKT)

FINDING
The acylcarnitine, C5:1 (tiglylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
2-methyl-3-hydroxybutyric acidemia (2M3HBA)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms can begin in infancy. If left untreated, it can cause lack of energy, poor feeding, vomiting, diarrhea, and trouble breathing.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: BKT (PDF)
Provider - Positive result: BKT (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Biopterin defect in cofactor biosynthesis (BIOPT-BS)

FINDING
The amino acid, phenylalanine, is elevated.

OTHER ASSOCIATED DISORDERS
Phenylketonuria (PKU)
Hyperphenylalanemia (H-PHE)
Biopterin defect in cofactor regeneration (BIOPT-REG)

CAUSE
A critical substance that helps an enzyme break down protein from food cannot be made.

EARLY SIGNS
If untreated, it can cause lack of energy, poor feeding, muscle weakness, developmental delays, behavioral problems, and seizures.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: BIOPT-BS (PDF)
Provider - Positive result: BIOPT-BS (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Biopterin defect in cofactor regeneration (BIOPT-REG)

FINDING
The amino acid, phenylalanine, is elevated.

OTHER ASSOCIATED DISORDERS
Phenylketonuria (PKU)
Hyperphenylalanemia (H-PHE)
Biopterin defect in cofactor biosynthesis (BIOPT-BS)

CAUSE
A key substance that helps an enzyme break down protein from food cannot be recycled and reused.

EARLY SIGNS
If untreated, it can cause lack of energy, poor feeding, muscle weakness, developmental delays, behavioral problems, and seizures.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: BIOPT-REG (PDF)
Provider - Positive result: BIOPT-REG (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Biotinidase deficiency (BTD)

FINDING
The enzyme, biotinidase, is either low or absent.

OTHER ASSOCIATED DISORDERS
None

CAUSE
There is not enough of the biotinidase enzyme to use and recycle an essential vitamin (biotin) from food needed for energy and growth.

EARLY SIGNS
There are two forms of this disease: profound and partial. If left untreated, profound deficiency can cause muscle weakness, hearing and vision problems, hair loss, skin rashes, and seizures. Partial deficiency is a milder form of this condition.

TREATMENT
Consists of vitamin (biotin) supplements.

DISORDER GROUP
Metabolic

SCREENING METHOD
Fluorometry

FACT SHEETS
Family - Borderline result: BTD (PDF)
Family - Positive result: BTD (PDF)
Provider - Positive result: BTD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

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C

Carnitine acylcarnitine translocase deficiency (CACT)

FINDING
The acylcarnitine, C16 (hexadecanoylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
Carnitine palmitoyltransferase deficiency type 2 (CPT-II)

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
If untreated, it can cause muscle weakness, low blood sugar, enlarged liver, breathing and heart problems, and seizures.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: CACT (PDF)
Provider - Positive result: CACT (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Carnitine palmitoyltransferase deficiency type 1 (CPT-1)

FINDING
The acylcarnitine, C0 (free carnitine), is elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
If untreated, symptoms often appear in early childhood with lack of energy, irritability, poor appetite, vomiting, diarrhea, low blood sugar and enlarged liver. Symptoms can progress to liver failure, seizures, coma, and death.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: CPT-1 (PDF)
Provider - Positive result: CPT-1 (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Carnitine palmitoyltransferase deficiency type 2 (CPT-II)

FINDING
The acylcarnitine, C16 (hexadecanoylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
Carnitine acylcarnitine translocase deficiency (CACT)

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
If untreated, it can cause muscle weakness, low blood sugar, enlarged liver, breathing and heart problems, and seizures.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: CPT-II (PDF)
Provider - Positive result: CPT-II (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Carnitine uptake defect (CUD)

AKA: Carnitine transport defect

FINDING
The acylcarnitine, C0 (free carnitine), is either low or absent.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
Health problems can range from mild to life-threatening. Symptoms often appear in infancy or early childhood with lack of energy, vomiting, low blood sugar, muscle weakness, and heart problems. If untreated, symptoms can progress to heart and liver failure, seizures, coma, and death.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: CUD (PDF)
Provider - Positive result: CUD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

CFTR-related metabolic syndrome

FINDING
The enzyme, immunoreactive trypsinogen (IRT), is elevated and up to two CFTR variants identified.

OTHER ASSOCIATED DISORDERS
Cystic fibrosis (CF)

CAUSE
Changes (called variants) in both copies of the CFTR gene are causing the genes to not work correctly; most likely one or both of the variants are of varying clinical significance.

EARLY SIGNS
Individuals with CRMS have less severe cystic fibrosis symptoms, but many never have any symptoms.

TREATMENT
Not needed unless symptoms develop.

DISORDER GROUP
Other blood spot disorders

SCREENING METHOD
Two site fluoroimmunometric assay
2nd Tier: molecular assay for 39 common variants

FACT SHEETS
Family – borderline result: CF (PDF)
Provider – borderline result: CF (PDF)
Family – positive result: CF (PDF)
Provider – positive result: CF (PDF)

SPECIALIST CONTACT LIST
Cystic Fibrosis Centers (PDF)

Citrullinemia type 1 (CIT-I)

FINDING
The amino acid, citrulline, is elevated.

OTHER ASSOCIATED DISORDERS
Citrullinemia type 2 (CIT-II)

CAUSE
An enzyme needed to remove a waste product (ammonia) from the body that is created when breaking down protein from food is not working correctly.

EARLY SIGNS
Symptoms can begin in the newborn period. If left untreated, it can cause lack of energy, poor feeding, seizures, brain damage, and coma.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: CIT-I (PDF)
Provider - Positive result: CIT-I (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Citrullinemia type 2 (CIT-II)

FINDING
The amino acid, citrulline, is elevated.

OTHER ASSOCIATED DISORDERS
Citrullinemia type 1 (CIT-I)

CAUSE
An enzyme needed to break down carbohydrates from food and remove the waste product (ammonia) from the body is not working correctly.

EARLY SIGNS
Symptoms can begin in infancy. If untreated, children can develop jaundice (yellowing of skin and eyes), delayed growth, and low blood sugar.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: CIT-II (PDF)
Provider - Positive result: CIT-II (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Congenital adrenal hyperplasia (CAH)

FINDING
The hormone, 17-hydroxyprogesterone (17-OHP), is elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
There is not enough of the 21-hydroxylase enzyme needed to make certain hormones that help control growth and development.

EARLY SIGNS
There are three types of CAH. If untreated, the most severe type can cause poor feeding, weight loss, sleepiness, dehydration, and vomiting. The loss of salt from the body can be life-threatening.

TREATMENT
Consists of medicine to regulate hormones.

DISORDER GROUP
Endocrine

SCREENING METHOD
Time-resolved fluoroimmunoassay
2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: CAH (PDF)
Provider - Positive result: CAH (PDF)

SPECIALST CONTACT LIST
Endocrinology specialist contact list (PDF)

Congenital hypothyroidism (CH)

FINDING
The hormone, thyroid stimulating hormone (TSH), is elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
The thyroid gland is not working correctly. The thyroid gland makes thyroid hormone that helps control growth and development.

EARLY SIGNS
There are usually no symptoms in the newborn period. If untreated, it can cause jaundice, muscle weakness, learning disabilities, and delayed growth.

TREATMENT
Consists of medicine to regulate hormones.

DISORDER GROUP
Endocrine

SCREENING METHOD
Two site fluoroimmunometric assay

FACT SHEETS
Family - Borderline result: TSH (PDF)
Family - Positive result: CH (PDF)
Provider - Positive result: CH (PDF)

SPECIALST CONTACT LIST
Endocrinology specialist contact list (PDF)

Cystic fibrosis (CF)

FINDING
The enzyme, immunoreactive trypsinogen (IRT), is elevated and up to two CFTR variants identified.

OTHER ASSOCIATED DISORDERS
CFTR-related metabolic syndrome (CRMS)

CAUSE
Changes (called variants) in both copies of the CFTR gene are causing the genes to not work correctly; most likely both are CF-causing.

EARLY SIGNS
CF causes thick, sticky mucus to build up leading to health problems. If untreated, it can cause poor weight gain, greasy or oily bowel movements, poor growth, coughing and wheezing, and lung infections.

TREATMENT
Consists of antibiotics and enzymes.

DISORDER GROUP
Other blood spot disorders

SCREENING METHOD
Two site fluoroimmunometric assay  

2nd Tier: molecular assay for 39 common variants

FACT SHEETS
Family - Borderline result: CF (PDF)
Provider - Borderline result: CF (PDF)
Family - Positive result: CF (1 variant) (PDF)
Provider - Positive result: CF (1 variant) (PDF)Family - Positive result: CF (2 variants) (PDF)
Provider - Positive result: CF (2 variants) (PDF)
Family - Positive result: CF (sig IRT & 1 variant) (PDF)
Provider - Positive result: CF (sig IRT & 1 variant) (PDF)

SPECIALST CONTACT LIST
Cystic Fibrosis Centers (PDF)

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D

Dienoyl-CoA reductase deficiency (DE-RED)

FINDING
The acylcarnitine, C10:2 (decadienoylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
With only two cases reported amongst millions of children screened, it is difficult to know how the disorder affects children. Both children had a small head, muscle weakness, poor feeding, and a shortened lifespan.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: DE-RED (PDF)
Provider - Positive result: DE-RED (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

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G

Galactoepimerase deficiency (GALE)

FINDING
Elevated total galactose.

OTHER ASSOCIATED DISORDERS
Galactokinase (GALK) deficiency
Duarte galactosemia

CAUSE
An enzyme needed to break down a sugar called galactose is not working correctly. Galactose comes from food, including breastmilk, dairy products, and many baby formulas.

EARLY SIGNS
There are three forms of GALE deficiency. Most have the mildest form that usually causes no health problems.

TREATMENT
Treatment is not always needed. If treatment is recommended, it would consist of a special diet avoiding all milk products.

DISORDER GROUP
Metabolic

SCREENING METHOD
Fluorometry

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: GALE (PDF)
Provider - Positive result: GALE (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Galactokinase deficiency (GALK)

FINDING
Elevated total galactose.

OTHER ASSOCIATED DISORDERS
Galactoepimerase (GALE) deficiency
Duarte galactosemia

CAUSE
An enzyme needed to break down a sugar called galactose is not working correctly. Galactose comes from food, including breastmilk, dairy products, and many baby formulas.

EARLY SIGNS
If left untreated, children can develop cataracts.

TREATMENT
Consists of a special diet avoiding all milk products.

DISORDER GROUP
Metabolic

SCREENING METHOD
Fluorometry

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: GALK (PDF)
Provider - Positive result: GALK (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Galactosemia (GALT)

FINDING
The enzyme, galactose-1-phosphate uridyltransferase (GALT), is either low or absent.

OTHER ASSOCIATED DISORDERS
Duarte galactosemia (DG)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency

CAUSE
An enzyme needed to break down a sugar called galactose is not working correctly. Galactose comes from food, including breastmilk, dairy products, and many baby formulas.

EARLY SIGNS
Children are usually jaundiced (yellowing of skin and eyes) at first, lack energy, and feed poorly. If untreated, children can develop organ damage and life-threatening infections.

TREATMENT
Consists of a special diet avoiding all milk products.

DISORDER GROUP
Metabolic

SCREENING METHOD
Fluorometry

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: GALT (PDF)
Provider - Positive result: GALT (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Glutaric acidemia type 1 (GA-I)

FINDING
The acylcarnitine, C5-DC+C6-OH, is elevated. Additional screening shows elevated glutaric acid and 3-hydroxyglutaric acid.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Many children are usually healthy at birth but can have a large head. Some children have only a few health problems while others can have multiple health problems. If untreated, children can develop abnormal movement, problems with their muscles, and brain damage.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: GA-I (PDF)
Provider - Positive result: GA-I (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Glutaric acidemia type 2 (GA-II)

AKA: Multiple acyl-CoA dehydrogenase deficiency (MADD)

FINDING
The acylcarnitines, C4 (iso-/butyrylcarnitine) and C5 (isovaleryl-/2-methylbutyrylcarnitine), are elevated. Additional screening shows elevated glutaric acid and 2-hydroxyglutaric acid.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
GA-2 is different for each child. Some children have severe symptoms that are present at birth and are life-threatening. Others have a less severe form that begins in childhood or adulthood with lack of energy, vomiting, low blood sugar, muscle weakness, and a “sweaty feet” smell. If untreated, symptoms can progress to trouble breathing, seizures, and death.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: GA-II (PDF)
Provider - Positive result: GA-II (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Back to top of page

H

Hemoglobin C disease (FC)

FINDING
Hemoglobin C only; no hemoglobin A.

OTHER ASSOCIATED DISORDERS
Hemoglobin C-beta thalassemia
Hemoglobin C-hereditary persistence of fetal hemoglobin

CAUSE
Red blood cells are not able to carry oxygen to the body correctly.

EARLY SIGNS
Most children never have symptoms. Some children are at risk for mild anemia (drop in red blood cell count). If untreated, it is possible to develop a large spleen and gallstones.

TREATMENT
Treatment is not always needed.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
Family - Positive result: FC (PDF)
Provider - Positive result: FC (PDF)
Provider - Guide to Determine if Hematology Consultation is Needed (PDF)

SPECIALST CONTACT LIST
Hematology specialist contact list (PDF)

Hemoglobin E disease (FE)

FINDING
Hemoglobin E only; no hemoglobin A.

OTHER ASSOCIATED DISORDERS
Hemoglobin E-beta thalassemia

CAUSE
Red blood cells are not able to carry oxygen to the body correctly.

EARLY SIGNS
Most children never have symptoms. Some children are at risk for mild anemia (drop in red blood cell count) and smaller than normal red blood cells.

TREATMENT
Treatment is not always needed.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
Family - Positive result: FE (PDF)
Provider - Positive result: FE (PDF)
Provider - Guide to Determine if Hematology Consultation is Needed (PDF)

SPECIALST CONTACT LIST
Hematology specialist contact list (PDF)

Hemoglobin SC disease (FSC)

FINDING
Hemoglobin S and C; no hemoglobin A.

OTHER ASSOCIATED DISORDERS
None

CAUSE
Red blood cells are not able to carry oxygen to the body correctly.

EARLY SIGNS
Children are at risk for a drop in red blood cell count (anemia), large spleen, infections, painful crises, and lung disease.

TREATMENT
Consists of medications and occasionally blood transfusions.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
Family - Positive result: FSC (PDF)
Provider - Positive result: FSC (PDF)
Provider - Guide to Determine if Hematology Consultation is Needed (PDF)

SPECIALST CONTACT LIST
Hematology specialist contact list (PDF)

Homocystinuria (HCY)

AKA: Cystathionine beta-synthase (CBS) deficiency

FINDING
The amino acid, methionine, is elevated. Additional screening shows elevated total homocysteine.

OTHER ASSOCIATED DISORDERS
Hypermethioninemia (MET)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms typically begin after a year of age. If untreated, children can develop eye problems, blood clots, bone abnormalities, intellectual disabilities, and behavioral problems.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: HCY (PDF)
Provider - Positive result: HCY (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Hypermethioninemia (MET)

AKA: Glycine N-methyltransferase (GNMT) deficiency

FINDING
The amino acid, methionine, is elevated.

OTHER ASSOCIATED DISORDERS
Homocystinuria (HCY)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Many children never develop symptoms. If untreated, some children may develop muscle weakness, lack of energy, a “cabbage-like”’ smell, and intellectual disabilities.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: MET (PDF)
Provider - Positive result: MET (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Hyperphenylalaninemia (H-PHE)

AKA: PKU variant

FINDING
The amino acid, phenylalanine, is elevated.

OTHER ASSOCIATED DISORDERS
Phenylketonuria (PKU)
Biopterin defect in cofactor biosynthesis (BIOPT-BS)
Biopterin defect in cofactor regeneration (BIOPT-REG)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Most children never develop symptoms. If untreated, some children have a small risk of brain damage.

TREATMENT
Treatment is not always needed. If treatment is recommended, it would consist of a special diet.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: H-PHE (PDF)
Provider - Positive result: H-PHE (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

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I

Isobutyryl-CoA dehydrogenase deficiency (IBD)


AKA: Isobutyrylglycinuria (IBG)

FINDING
The acylcarnitine, C4 (iso-/butyrylcarnitine), is elevated. Additional screening shows that ethylmalonic acid and methylsuccinic acid are within normal limits.

OTHER ASSOCIATED DISORDERS
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
With only one case reported amongst millions of children screened, it is difficult to know how the disorder affects children. The one child reported had delayed growth, lack of energy, and difficulty breathing, anemia, and an enlarged heart.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: IBD (PDF)
Provider - Positive result: IBD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Isovaleric acidemia (IVA)

FINDING
The acylcarnitine, C5 (isovaleryl-/2-methylbutyrylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
2-methylbutyryl-CoA dehydrogenase deficiency (SBCAD)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Some children have few health problems while others have very serious symptoms. In severe cases, symptoms can begin within a few days of life. Symptoms can include poor feeding, vomiting, lack of energy, and seizures. If untreated, children can get very sick and go into a coma.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: IVA (PDF)
Provider - Positive result: IVA (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Back to top of page

L

Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)

FINDING

The acylcarnitine, C16-OH (3-OH-hexadecanoylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
Trifunctional protein (TFP) deficiency

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
Symptoms usually begin in infancy and can be life-threatening. If untreated, it can cause lack of energy, feeding difficulties, low blood sugar, muscle weakness, and liver problems.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: LCHAD (PDF)
Provider - Positive result: LCHAD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

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M

Malonic acidemia (MAL)

AKA: Malonyl-CoA decarboxylase (MCD) deficiency

FINDING
The acylcarnitine, C3-DC (malonylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
Medium/short-chain hydroxyacyl-CoA dehydrogenase (MSCHAD) deficiency

CAUSE
An enzyme needed to break down fats from food is not working correctly.

EARLY SIGNS
With only a few cases reported amongst millions of children screened, it is difficult to know how the disorder affects children. In these reported cases, symptoms began between a few days of age up to 13 years of age. If untreated, symptoms include muscle weakness, diarrhea, vomiting, intellectual disabilities, enlarged heart, and seizures.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: MAL (PDF)
Provider - Positive result: MAL (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Maple syrup urine disease (MSUD)

AKA: Branched-chain alpha-keto acid dehydrogenase (BCKD) deficiency

FINDING
The amino acids, leucine, isoleucine, and other branched-chain amino acids, are elevated. Additional screening shows elevated alloisoleucine.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
There are multiple forms of MSUD. The most common and severe form begins in the newborn period. Symptoms include poor feeding, vomiting, lack of energy, urine that smells sweet like maple syrup, and a high-pitched cry. If untreated, children can develop intellectual disabilities, seizures, brain swelling, coma, and a shortened lifespan.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) stable isotope dilution analysis by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: MSUD (PDF)
Provider - Positive result: MSUD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD)

FINDING
The acylcarnitine, C4-OH (3-OH-iso-/butyrylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
Malonic acidemia (MAL)

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
Most children never have symptoms. If untreated, some children present with lack of energy, vomiting, and low blood sugar. They are also at risk for seizures, life-threatening heart and breathing problems, and coma.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: M/SCHAD (PDF)
Provider - Positive result: M/SCHAD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

FINDING
The acylcarnitine, C8 (octanoylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
Symptoms usually begin in infancy and include lack of energy, vomiting, and low blood sugar. If untreated, it can cause breathing difficulties, seizures, organ damage, coma, and possibly death.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: MCAD (PDF)
Provider - Positive result: MCAD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Medium-chain keto acyl-CoA thiolase deficiency (MCKAT)

FINDING
The acylcarnitines, C5-DC (glutarylcarnitine) +C6-OH (3-hydroxyhexanoylcarnitine) and C8 (octanoylcarnitine), are elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
With only a few cases reported amongst millions of children screened, it is difficult to know how the disorder affects children. Symptoms could include vomiting, poor feeding, low blood sugar, muscle weakness, enlarged heart, and coma.

TREATMENT
We do not yet know the effectiveness of treatment. Children should receive treatment based on their symptoms such as intravenous (IV) fluids for dehydration and lowering amount of acid in the blood.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: MCKAT (PDF)
Provider - Positive result: MCKAT (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Methylmalonic acidemia (cobalamin disorders) (MMA)

AKA: Cobalamin A, B defiencies

FINDING
The acylcarnitine, C3 (propionylcarnitine), is elevated. Additional screening shows elevated methylmalonic acid.

OTHER ASSOCIATED DISORDERS
Propionic acidemia (PA)
Methylmalonic acidemia (mutase deficiency)
Methylmalonic acidemia with homocystinuria

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms can begin in the newborn period and include lack of energy, poor feeding, vomiting, and muscle weakness. If untreated, it can cause breathing troubles and brain damage.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: MMA (PDF)
Provider - Positive result: MMA (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Methylmalonic acidemia (mutase deficiency) (MUT)

AKA: Methylmalonyl-CoA mutase deficiency

FINDING
The acylcarnitine, C3 (propionylcarnitine), is elevated. Additional screening shows elevated methylmalonic acid.

OTHER ASSOCIATED DISORDERS
Propionic acidemia (PA)
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia with homocystinuria

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms can begin in the newborn period and include lack of energy, poor feeding, vomiting, and muscle weakness. If untreated, it can cause breathing troubles and brain damage.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: MUT (PDF)
Provider - Positive result: MUT (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Methylmalonic acidemia with homocystinuria (Cbl, C, D, F)

AKA: Cobalamin C, D, F deficiencies

FINDING
The acylcarnitine, C3 (propionylcarnitine), is elevated. Additional screening shows elevated methylmalonic acid.

OTHER ASSOCIATED DISORDERS
Propionic acidemia (PA)
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia (mutase deficiency)

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms can begin between the first few days of life and later childhood. Symptoms include, growth delay, small head size, skin rash, vomiting, poor feeding, lack of energy, and muscle weakness.

TREATMENT
We do not yet know the effectiveness of treatment. Suggested treatment consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: Cbl (PDF)
Provider - Positive result: Cbl (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Mucopolysaccharidosis type 1 (MPS I)

AKA: Hurler-Scheie syndrome

FINDING
The enzyme, alpha-L-iduronidase (IDUA), is either low or absent. Additional screening shows elevated complex sugars called glycosaminoglycans (dermatan sulfate and heparan sulfate).

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down complex sugars from food is not working correctly.

EARLY SIGNS
There are two forms: severe and attenuated. With the severe form, symptoms begin in the first year or two of life. If untreated, it can cause a large head size, bone and joint problems, heart problems, large liver and spleen, vision and hearing problems, intellectual disability, and possibly a shortened lifespan.

TREATMENT
Enzyme replacement therapy has shown to slow or stabilize symptoms. The primary treatment for the majority of children with the severe form is a stem cell transplant.

DISORDER GROUP
Lysosomal storage disorders

SCREENING METHOD
Flow injection analysis-tandem mass spectrometry (FIA-MS/MS)
2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories
3rd Tier: full gene analysis by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: MPS I (PDF)
Provider - Positive result: MPS I (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Multiple CoA carboxylase deficiency (MCD)

AKA: Holocarboxylase synthetase deficiency

FINDING
The acylcarnitines, C4-DC (methylmalonyl-/succinylcarnitine) + C5-OH (3-OH-isovalerylcarnitine) and C3 (propionylcarnitine), are elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed that attaches an essential vitamin (biotin) to other enzymes so that they can break down food for energy is not working correctly.

EARLY SIGNS
Symptoms begin in the newborn period and include poor feeding, lack of energy, vomiting, muscle weakness, peeling skin rash, and hair loss.

TREATMENT
Consists of vitamin (biotin) supplements.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: MCD (PDF)
Provider - Positive result: MCD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

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P

Phenylketonuria (PKU)

AKA: Phenylalanine hydroxylase (PAH) deficiency

FINDING
The amino acid, phenylalanine, is elevated.

OTHER ASSOCIATED DISORDERS
Hyperphenylalanemia (H-PHE)
Biopterin defect in cofactor biosynthesis (BIOPT-BS)
Biopterin defect in cofactor regeneration (BIOPT-REG)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms begin in infancy and include, irritability, dry skin (eczema), and growth problems. If untreated, it can cause intellectual disabilities and seizures.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: PKU (PDF)
Provider - Positive result: PKU (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Pompe disease (POMPE)

AKA: Glycogen storage disease type II

FINDING
The enzyme, acid alpha-glucosidase (GAA), is either low or absent. Additional screening shows reduced GAA activity and an elevated (creatine/creatinine)/GAA ratio.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down complex sugars from food is not working correctly.

EARLY SIGNS
There are three types and the severity and age when symptoms begin differ. With the most severe form, symptoms begin in the newborn period and includes muscle weakness, heart problems, large liver, breathing problems, and possibly a shortened lifespan.

TREATMENT
Consists of enzyme replacement therapy.

DISORDER GROUP
Lysosomal storage disorders

SCREENING METHOD
Flow injection analysis-tandem mass spectrometry (FIA-MS/MS)
2nd Tier: flow injection analysis-tandem mass spectrometry (FIA-MS/MS) by Mayo Clinic Laboratories
3rd Tier: full gene analysis by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: POMPE (PDF)
Provider - Positive result: POMPE (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Propionic acidemia (PA)

FINDING
The acylcarnitine, C3 (propionylcarnitine), is elevated. Additional screening shows elevated methylcitric acid.

OTHER ASSOCIATED DISORDERS
Methylmalonic acidemia (mutase deficiency)
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia (cobalamin disorders)

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms can begin between the first few days of life. Symptoms include vomiting, poor feeding, lack of energy, and muscle weakness. If untreated, it can cause heart problems, seizures, and coma.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: PA (PDF)
Provider - Positive result: PA (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Proximal urea cycle defect (UCD)

FINDING
The amino acid, citrulline, was either low or absent.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to remove the waste product (ammonia) from the body is not working correctly.

EARLY SIGNS
Symptoms can begin within the first few days of life and include lack of energy, poor feeding and growth, and seizures. If untreated, children can go into a coma and die.

TREATMENT
Consists of a special diet and medications. Sometimes dialysis (procedure that removes toxins from the blood) is needed. In severe cases, a liver transplant is considered.

DISORDER GROUP
Metabolic

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result (PDF)
Provider - Positive result (PDF)

SPECIALIST CONTACT LIST
Metabolic specialist contact list (PDF)

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S

Severe combined immunodeficiency (SCID)

AKA: Bubble boy disease

FINDING
The small circles of DNA created in T-cells, T-cell receptor excision circles, are either low or absent.

OTHER ASSOCIATED DISORDERS
T-cell lymphopenia

CAUSE
There is not enough of specific white blood cells called T-cells and B-cells needed for protection from infection and illness.

EARLY SIGNS
Children with SCID develop many infections that take a long time to go away even with treatment. If untreated, these infections can become serious and life-threatening.

TREATMENT
Consists of protection from infection and illness. Some children will be placed on immunoglobulin replacement therapy. SCID can be cured by a successful bone marrow transplant that is best performed within the first few months of life.

DISORDER GROUP
Other blood spot disorders (primary immunodeficiency)

SCREENING METHOD
Real-time quantitative polymerase chain reaction (qPCR)

FACT SHEETS
Family - Positive result: SCID (PDF)
Provider - Positive result: SCID (PDF)

SPECIALST CONTACT LIST
Immunology/infectious disease specialist contact list (PDF)

Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

FINDING
The acylcarnitine, C4 (iso-/butyrylcarnitine), is elevated. Additional screening shows elevated ethylmalonic acid and methylsuccinic acid.

OTHER ASSOCIATED DISORDERS
Isobutyryl-CoA dehydrogenase (IBD) deficiency

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
Most children have no health problems. Some children may become ill with vomiting, lack of energy, low blood sugar, muscle weakness, and seizures.

TREATMENT
Treatment is not always recommended. If treatment is recommended, it would consist of avoiding fasting and medications.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)
2nd Tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories

FACT SHEETS
Family - Positive result: SCAD (PDF)
Provider - Positive result: SCAD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Sickle cell disease (FS)

FINDING
Hemoglobin S only; no hemoglobin A.

OTHER ASSOCIATED DISORDERS
Sickle beta-zero thalassemia
Sickle-hereditary persistence of fetal hemoglobin

CAUSE
Red blood cells are not able to carry oxygen to the body correctly.

EARLY SIGNS
Children are at risk for a drop in red blood cell count (anemia), large spleen, infections, painful crises, lung disease, and stroke.

TREATMENT
Consists of antibiotics to prevent infection, medications, and blood transfusions. Some children pursue stem cell transplant.

DISORDER GROUP
Hemoglobinopathies

SCREENING METHOD
Isoelectric focusing (IEF) and high performance liquid chromatography (HPLC)

FACT SHEETS
Family - Positive result: FS (PDF)
Provider - Positive result: FS (PDF)

SPECIALST CONTACT LIST
Hematology specialist contact list (PDF)

Spinal muscular atrophy (SMA)

FINDING
Both copies of the SMN1 gene are absent.

OTHER ASSOCIATED DISORDERS
None

CAUSE
The nerve cells that control the muscles are not working correctly.

EARLY SIGNS
There are four types of SMA. The most common and severe form begins in the newborn period. Symptoms include swallowing and feeding difficulties, breathing difficulties, muscle weakness, and delayed motor milestones. If untreated, children get weaker over time and have a shortened lifespan.

TREATMENT
Consists of drug therapy and gene therapy. Since these treatments are only recently approved for use, long-term outcomes are not known.

DISORDER GROUP
Other blood spot disorders (neuromuscular)

SCREENING METHOD
Real-time quantitative polymerase chain reaction (qPCR)

FACT SHEETS
Family - Positive result: SMA (PDF)
Provider - Positive result: SMA (PDF)

SPECIALST CONTACT LIST
Neurology specialist contact list (PDF)

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T

T-cell lymphopenia

FINDING
The small circles of DNA created in T-cells, T-cell receptor excision circles, are low.

OTHER ASSOCIATED DISORDERS
Severe combined immunodeficiency (SCID)

CAUSE
There is not enough of specific white blood cells called T-cells needed for protection from infection and illness. T-cell lymphopenias can be caused secondary to birth defects like heart defects or a symptom of a syndrome like Down syndrome. Sometimes the cause of a T-cell lymphopenia cannot be found.

EARLY SIGNS
Children with T-cell lymphopenia can develop many infections that take a long time to go away even with treatment. If untreated, these infections can become serious and life-threatening.

TREATMENT
Consists of protection from infection and illness. Some children with more severe lymphopenia will be placed on immunoglobulin replacement therapy. Bone marrow or thymus transplants may be needed for severe lymphopenia.

DISORDER GROUP
Other blood spot disorders

SCREENING METHOD
Real-time quantitative polymerase chain reaction (qPCR)

FACT SHEETS
Family - Positive result: TCL (PDF)
Provider - Positive result: TCL (PDF)

SPECIALST CONTACT LIST
Immunology/infectious disease specialist contact list (PDF)

Trifunctional protein deficiency (TFP)

FINDING
The acylcarnitine, C16-OH (3-OH-hexadecanoylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
Symptoms usually begin in infancy and can be life-threatening. If untreated, it can cause lack of energy, feeding difficulties, low blood sugar, muscle weakness, and liver problems.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: TFP (PDF)
Provider - Positive result: TFP (PDF)

SPECIALST CONTACT LIST
Immunology/infectious specialist contact list (PDF)

Tyrosinemia type 1 (TYR-I)

AKA: Hepatorenal tyrosinemia

FINDING
The metabolite, succinylacetone, is elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms begin in infancy and include, diarrhea, vomiting, lack of energy, “cabbage-like” smell, jaundice (yellowing skin and eyes), and nosebleeds. If untreated, it can cause kidney and liver problems, trouble breathing, seizures, and coma.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: TYR-I (PDF)
Provider - Positive result: TYR-I (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Tyrosinemia type 2 (TYR-II)

AKA: Oculocutaneous tyrosinemia

FINDING
The amino acid, tyrosine, is elevated. Its metabolite, succinylacetone, is within normal limits.

OTHER ASSOCIATED DISORDERS
Tyrosinemia type 3 (TYR-III)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms begin in infancy and include teary eyes, sensitivity to light, eye redness, skin problems, and poor muscle coordination.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: TYR-II (PDF)
Provider - Positive result: TYR-II (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

Tyrosinemia type 3 (TYR-III)

FINDING
The amino acid, tyrosine, is elevated. Its metabolite, succinylacetone, is within normal limits.

OTHER ASSOCIATED DISORDERS
Tyrosinemia type 2 (TYR-II)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
With not many cases reported amongst millions of children screened, it is difficult to know how the disorder affects children. In the reported cases, symptoms included poor muscle coordination and seizures.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (amino acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: TYR-III (PDF)
Provider - Positive result: TYR-III (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

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V

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

FINDING
The acylcarnitine, C14:1 (tetradecenoylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
None

CAUSE
An enzyme needed to break down fats into energy the body needs to function is not working correctly.

EARLY SIGNS
Symptoms can begin in infancy and can be life-threatening. Symptoms include lack of energy, poor feeding, vomiting, low blood sugar, and muscle weakness. If untreated, it can lead to heart and liver problems.

TREATMENT
Consists of a special diet and avoiding fasting.

DISORDER GROUP
Metabolic (fatty acid oxidation disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: VLCAD (PDF)
Provider - Positive result: VLCAD (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

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X

X-linked adrenoleukodystrophy (X-ALD)

FINDING
The C26:0-lysophosphatidylcholine (C26:0-LPC) is elevated.

OTHER ASSOCIATED DISORDERS
X-ALD carrier
Other peroxisomal disorders (e.g., Zellweger spectrum disorders)

CAUSE
Certain fats (very long chain fatty acids) cannot be transported and broken down correctly.

EARLY SIGNS
There are three types of X-ALD found in males. The most severe type typically presents with behavioral problems in childhood. If untreated, it can lead to learning disabilities, seizures, paralysis, and a shortened lifespan.

TREATMENT
Consists of medications and stem cell transplant.

DISORDER GROUP
Metabolic (peroxisomal disorder)

SCREENING METHOD
Liquid chromatography tandem mass spectrometry (LC-MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: X-ALD (PDF)
Provider - Positive result: X-ALD (PDF)

SPECIALST CONTACT LIST
Metabolic/Bone Marrow Transplant Centers (PDF)

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Numerical

2-methyl-3-hydroxybutyric acidemia (2M3HBA)

FINDING
The acylcarnitine, C5:1 (tiglylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
Beta-ketothiolase (BKT) deficiency

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms can begin in infancy and males have more severe symptoms. Both males and females can have lack of energy, poor feeding, muscle weakness, and seizures.

TREATMENT
Consists of a special diet.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: 2M3HBA (PDF)
Provider - Positive result: 2M3HBA (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

2-methylbutyryl-CoA dehydrogenase deficiency (2MBG)

AKA: Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency

FINDING
The acylcarnitine, C5 (isovaleryl-/2-methylbutyrylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
Isovaleric acidemia (IVA)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
With only a few cases reported amongst millions of children screened, it is difficult to know how the disorder affects children. In these reported cases, symptoms typically began in infancy and included poor feeding, lack of energy, and low blood sugar. Most people found to have SBCAD in Minnesota are of Hmong descent and never develop symptoms.

TREATMENT
Consists of a special diet and medications. Some children may never need treatment.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: 2MBG (PDF)
Provider - Positive result: 2MBG (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)

AKA: HMG-CoA lyase deficiency

FINDING
The acylcarnitine, C4-DC (methylmalonyl-/succinylcarnitine) + C5-OH (3-OH-isovalerylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency
3-methylglutaconyl-CoA hydratase deficiency (3MGA)

CAUSE
An enzyme needed to break down protein and fats from food is not working correctly.

EARLY SIGNS
Symptoms typically begin in infancy and include poor feeding, lack of energy, muscle weakness, vomiting, low blood sugar, and behavior changes. If untreated, it can cause brain damage and a shortened lifespan.

TREATMENT
Consists of a special diet and medications.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Positive result: HMG (PDF)
Provider - Positive result: HMG (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)

FINDING
The acylcarnitine, C4-DC (methylmalonyl-/succinylcarnitine) + C5-OH (3-OH-isovalerylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
3-methylglutaconyl-CoA hydratase deficiency (3MGA)

CAUSE
An enzyme needed to break down protein from food is not working correctly.

EARLY SIGNS
Symptoms typically begin in infancy and range from mild to life-threatening. Symptoms may include poor feeding, lack of energy, muscle weakness, vomiting, and seizures. If untreated, it can cause brain damage and a shortened lifespan. Some people with 3-MCC deficiency never experience symptoms.

TREATMENT
Consists of a special diet and medications. Some children may never need treatment.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: 3-MCC (PDF)
Provider - Positive result: 3-MCC (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

3-methylglutaconyl-CoA hydratase deficiency(3MGA)

FINDING
The acylcarnitine, C4-DC (methylmalonyl-/succinylcarnitine) + C5-OH (3-OH-isovalerylcarnitine), is elevated.

OTHER ASSOCIATED DISORDERS
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)

CAUSE
The cause of 3MGA depends on the type. The cause for some of the types is not completely understood.

EARLY SIGNS
There are five types of 3MGA, but each type typically begins to show symptoms in the newborn period. All of the types cause issues with the child’s muscles and cause some sort of delays (growth or development). Types 2, 3, and 5 can cause life-threatening heart problems.

TREATMENT
There are no specific treatments, but it is important for a cardiologist to monitor for heart problems.

DISORDER GROUP
Metabolic (organic acid disorder)

SCREENING METHOD
Tandem mass spectrometry (MS/MS)

FACT SHEETS
Family - Borderline result (PDF)
Family - Positive result: 3MGA (PDF)
Provider - Positive result: 3MGA (PDF)

SPECIALST CONTACT LIST
Metabolic specialist contact list (PDF)

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