minnesota newborn screening program

Disorder Information

On this page:
Newborn Screening Disorder Panel
Disorder Information/Fact Sheets

What is a Disorder?

A disorder is a health condition that causes the body to not work properly. There are many different disorders that can affect how the body functions in many different ways.

What is a “Screening Panel?”

Each state screens for a list of disorders. This list of disorders is called a “screening panel.” Screening panels vary from state to state. Minnesota Department of Health now screens for more than 50 disorders that:

  • affect how the body breaks down proteins (such as PKU)
  • cause hormone problems (such as congenital hypothyroidism)
  • cause blood problems (such as sickle cell disease)
  • affect how the body makes energy (such as MCAD)
  • affect breathing and getting nutrients from food (such as cystic fibrosis)
  • affect language and communication (such as hearing loss)

Almost every day, the Minnesota Newborn Screening Program finds a baby who will benefit from early diagnosis and treatment.

Newborn Screening Disorder Panel

Amino Acid Disorders
Arginemia (ARG, Arginase deficiency)
Argininosuccinate acidemia (ASA)
Defects of biopterin cofactor biosynthesis (BIOPT-BS)
Defects of biopterin cofactor regeneration (BIOPT-REG)
Citrullinemia type I (CIT-I, argininosuccinate synthetase)
Citrullinemia type II (CIT-II, citrin deficiency)
Homocystinuria (HCY, cystathionine beta synthase)
Hyperphenylalaninemia (H-PHE)
Hypermethioninemia (MET, I/III deficiency)
Maple Syrup Urine Disease (MSUD, branched-chain ketoacid dehydrogenase)
Phenylketonuria
Tyrosinemia type I (TYR-1)
Tyrosinemia type II (TYR-II)
Tyrosinemia type III (TYR-III)

Fatty Acid Oxidation Disorders
Carnitine acylcarnitine translocase deficiency (CACT)
Carnitine uptake defect (CUD, carnitine transport defect)
Carnitine palmitoyltransferase deficiency I (CPT-1a)
Carnitine palmitoyltransferase deficiency II (CPT-II)
Dienoyl-CoA reductase deficiency (DE-RED)
Glutaric acidemia type II (GA-II)
Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)
Medium/Short chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (M/SCHAD)
Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
Trifunctional protein deficiency (TFP)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acid Disorders
2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG, SBCAD)
3-Hydroxy 3-methylglutaric aciduria (HMG, 3-Hydrox 3-methylglutaryl-CoA lyase)
3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
3-Methylglutaconic aciduria (3MGA, Type I hydratase deficiency)
Beta ketothiolase (BKT, mitochondrial acetoacetyl-CoA thiolase, short-chain ketoacyl thiolase)
Glutaric acidemia type I (GA-1)
Isobutyryl-CoA dehydrogenase deficiency (IBG)
Isovaleric acidemia (IVA, Isovaleryl-CoA dehydrogenase deficiency)
Malonic acidemia (MAL, Malonyl-CoA decarboxylase)
Methylmalonic acidemia (CBL A,B; Vitamin B12 Disorders)
Methylmalonic acidemia (CBL C,D)
Methylmalonic acidemia (MUT, methylmalonyl-CoA mutase)
Multiple carboxylase deficiency (MCD, holocarboxylase synthetase)
Propionic acidemia (PROP, propionyl-CoA carboxylase)

Endocrine Disorders
Congenital adrenal hyperplasia (CAH)
Congenital hypothyroidism (CH)

Hemoglobinopathies
Sickle cell disease (HB S/S)
Sickle-C disease (HB S/C)
S-Beta thalassemia
Variant hemoglobinopathies

Others
Biotinidase deficiency (BIO)
Classic galactosemia (GALT)
Galactose epimerase deficiency (GALE)
Galactokinase deficiency (GALK)
Cystic fibrosis
Hearing

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Disorder Information

The Newborn Screening Program has written family and medical fact sheets about some of the more common disorders found by newborn screening. It is important to remember that a baby who has a positive newborn screen needs more testing before we know for sure if the baby has the condition.

The fact sheets will give you some basic information about some of the disorders. If you have any questions about the information you read, please talk to your doctor or contact the Minnesota Newborn Screening Program at (800) 664-7772.

Disorder Abbreviation Family Fact Sheets Medical Fact Sheets
Amino Acid Disorders      
Argininosuccinic Acidemia ASA ASA family fact sheet
(PDF: 49KB/1 page)		 ASA medical fact sheet
(PDF: 107KB/1 page)
Citrullinemia CIT CIT family fact sheet
(PDF: 50KB/1 page)		 CIT medical fact sheet
(PDF: 107KB/1 page)
Maple Syrup Urine Disease
(branched-chain ketoaciduria)		 MSUD MSUD (branched-chain ketoaciduria) family fact sheet
(PDF: 50KB/1 page)		 MSUD (branched-chain ketoaciduria) medical fact sheet
(PDF: 107KB/1 page)
Phenylketonuria PKU PKU family fact sheet
(PDF: 50KB/1 page)		 PKU medical fact sheet
(PDF: 107KB/1 page)
 
Endocrine Disorders      
Congenital Adrenal Hyperplasia CAH CAH family fact sheet
(PDF: 93KB/1 page)		 CAH medical fact sheet
(PDF: 107KB/1 page)
Congenital Hypothyroidism   Congenital Hypothyroidism family fact sheet
(PDF: 50KB/1 page)		 Congenital Hypothyroidism medical fact sheet
(PDF: 107KB/1 page)
  Borderline Congenital Hypothyroidism Results     Borderline Congenital Hypothyroidism Results medical fact sheet
(PDF: 82KB/1 page)
 
Fatty Acid Oxidation Disorders      
Carnitine Uptake/Transport Deficiency CUD/CTD CUD/CTD family fact sheet
(PDF: 90KB/1 page)		 CUD/CTD medical fact sheet
(PDF: 108KB/1 page)
Long-chain 3-hydroxy acyl-CoA
dehydrogenase deficiency		 LCHAD LCHAD family fact sheet
(PDF: 111KB/1 page)		 LCHAD medical fact sheet
(PDF: 109KB/1 page)
Medium-chain acyl-CoA dehydrogenase deficiency MCAD MCAD family fact sheet
(PDF: 80KB/1 pages)		 MCAD medical fact sheet
(PDF: 108KB/1 pages)
Short-chain acyl-CoA
dehydrogenase deficiency		 SCAD SCAD family fact sheet
(PDF: 118KB/1 page)		 SCAD medical fact sheet
(PDF: 107KB/1 page)
Very long-chain acyl-CoA dehydrogenase deficiency VLCAD VLCAD family fact sheet
(PDF: 80K/1 page)		 VLCAD medical fact sheet
(PDF: 108KB/1 page)
 
Hemoglobinopathy Disorders      
Hemoglobin E/beta thalassemia     Hemoglobin E/beta thalassemia medical fact sheet
(PDF: 109 KB/1 page)
Sickle Cell Disease   Sickle Cell Disease family fact sheet
(PDF: 83 KB/1 page)		 Sickle Cell Disease medical fact sheet
(PDF: 107 KB/1 page)
  Sickle Cell Disease Emergency Guidelines     Sickle Cell Disease Emergency Guidelines
(PDF: 45 KB/1 page)
 
Organic Acid Disorders      
2-methylbutyryl-CoA dehydrogenase deficiency SBCAD SBCAD family fact sheet
(PDF: 89KB/1 page)		 SBCAD medical fact sheet
(PDF: 108KB/1 page)
3-methylcrotonyl-CoA carboxylase deficiency 3-MCC 3-MCC family fact sheet
(PDF: 90KB/1 page)		 3-MCC medical fact sheet
(PDF: 1087B/1 page)
Glutaric Acidemia, type 1 GA1 GA1 family fact sheet
(PDF: 50KB/1 page)		 GA1 medical fact sheet
(PDF: 107KB/1 page)
Isovaleric Acidemia IVA IVA family fact sheet
(PDF: 49KB/1 page)		 IVA medical fact sheet
(PDF: 107KB/1 page)
Methylmalonic Acidemia MMA MMA family fact sheet
(PDF: 86KB/1 pages)		 MMA medical fact sheet
(PDF: 107KB/1 pags)
 
Other Disorders      
Biotinidase Deficiency   Biotinidase Deficiency family fact sheet
(PDF: 126KB/1 page)		 Biotinidase Deficiency medical fact sheet
(PDF: 107KB/1 page)
Cystic Fibrosis CF CF family fact sheet
(PDF: 49KB/1 page)		 CF medical fact sheet
(PDF: 108KB/1 page)
Galactosemia   Galactosemia family fact sheet
(PDF: 83 KB/1 page)		 Galactosemia medical fact sheet
(PDF: 106 KB/1 page)
Severe Combined Immune Deficiency/Primary T-cell Lymphopenia SCID SCID family fact sheet
(PDF: 151 KB/1 page)		 SCID medical fact sheet
(PDF: 130KB/1 page)
  Laboratory Evaluation for SCID/T-cell Lymphopenia     Laboratory Evaluation for SCID/T-cell Lymphopenia
(PDF: 78 KB/1 page)
 
Additional Newborn Screening Fact Sheets      
Borderline Results   Borderline Results family fact sheet
(PDF: 83KB/1 page)		  
Lab Evaluation     Lab Evaluation medical fact sheet
(PDF: 132KB/1 page)
NICU    NICU medical fact sheet
(PDF: 106KB/1 page)
 
Hearing      
Hearing Loss   Hearing loss family fact sheet
(PDF: 87KB/1 page)		 Hearing Loss medical fact sheet
(PDF: 108KB/1 page)
Clinic Follow-up     Clinic Follow-up medical fact sheet
(PDF: 107KB/1 page)
Hospital Follow-up     Hospital Follow-UP medical fact sheet
(PDF: 107KB/1 page)
Hearing Technologies     Hearing Technologies medical fact sheet
(PDF: 107KB/1 page)

(All fact sheets are in pdf format, one page and approximately 110KB)

Updated Monday, 23-Jan-2012 11:01:15 CST