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

Disorder Fact Sheets

Disorder fact sheets

The following disorder fact sheets are designed to provide additional disorder-specific information to both families and providers following an abnormal newborn screening result. It is important to keep in mind that an abnormal result means more testing is needed to know for sure whether the baby is affected by a disorder.

Family fact sheets offer families more specific information about the disorder and the next steps available with their primary care provider to ensure their child's health and well-being.

Provider fact sheets offer health care providers recommended short-term actions following an abnormal result, as well as some basic information about the disorder.

Please note: We are currently in the process of updating all fact sheets.

Disorders (alphabetized)

A

B

C

G

H

I

L

M

Numerical

P

S

T

V

X

Disorders Primary Finding Resources

Argininosuccinic Acidemia (ASA)

[Back to Disorders List ]

Citrulline

Family fact sheet
(PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Beta ketothiolase deficiency (BKT)

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

Family fact sheet
(PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Biotinidase deficiency (BIO)

[Back to Disorders List ]

Absent/Reduced Biotinidase (BTD)

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Biotinidase deficiency (BIO) - borderline

[Back to Disorders List ]

Reduced Biotinidase (BTD)

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Carnitine uptake defect (CUD)

[Back to Disorders List ]

C0 (free carnitine) and other Acylcarnitines

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Citrullinemia type I (CIT-I)

[Back to Disorders List ]

Elevated Citrulline

Family fact sheet
(PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Citrullinemia type II (CIT-II)

[Back to Disorders List ]

Elevated Citrulline

Family fact sheet
(PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Congenital adrenal hyperplasia (CAH)

[Back to Disorders List ]

Elevation of 17-hydroxyprogesterone (17-OHP)

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Congenital hypothyroidism (CH)

[Back to Disorders List ]

Elevation of Thyroid Stimulating Hormone (TSH)

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Congenital hypothyroidism (CH) - borderline

[Back to Disorders List ]

Borderline elevation of Thyroid Stimulating Hormone (TSH)

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Cystic Fibrosis - 1 Mutation

[Back to Disorders List ]

Elevation of Immunoreactive Trypsinogen (IRT) and 1 CFTR Mutation Identified

CF 1M family fact sheet (PDF)

CF 1M provider fact sheet (PDF)

Resource list (PDF)

Cystic Fibrosis - High IRT 1 Mutation

[Back to Disorders List ]

Immunoreactive Trypsinogen (IRT) ≥ 100 ng/mL and 1 CFTR Mutation Identified

CF IRT1M family fact sheet (PDF)

CF IRT1M provider fact sheet (PDF)

Resource list (PDF)

Cystic Fibrosis - 2 Mutations

[Back to Disorders List ]

Elevated Immunoreactive Trypsinogen (IRT) and 2 CFTR Mutations Identified

CF 2M family fact sheet (PDF)

CF 2M provider fact sheet (PDF)

Resource list (PDF)

Cystic Fibrosis - High IRT Zero Mutations

[Back to Disorders List ]

Immunoreactive Trypsinogen (IRT) ≥ 100 ng/mL with No CFTR Mutations Identified

CF IRT family fact sheet (PDF)

CF IRT provider sheet (PDF)

Resource list (PDF)

Galactosemia

[Back to Disorders List ]

Absent/Reduced GALT

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Galactokinase (GALK) deficiency

Galactose epimerase (GALE) deficiency

[Back to Disorders List ]

Elevated TGAL with normal GALT

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Glutaric acidemia type I (GA-I)

[Back to Disorders List ]

Elevation of C5-DC Acylcarnitine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Hemoglobin C disease

[Back to Disorders List ]

FC

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Hemoglobin E disease

[Back to Disorders List ]

FE

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Hemoglobin SC disease

[Back to Disorders List ]

FSC

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Homocystinuria (HCY)

[Back to Disorders List ]

Elevation of Methionine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Hypermethioninemia (MET)

[Back to Disorders List ]

Elevation of Methionine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Hyperphenylalaninemia (H-PHE)

[Back to Disorders List ]

Elevation of Phenylalanine

Family fact sheet
(PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Isovaleric acidemia (IVA)

[Back to Disorders List ]

Elevation of C5 Acylcarnitine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

[Back to Disorders List ]

C16-OH +/- C18 and other long chain acylcarnities

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Medium-chain acyl-COA dehydrogenase deficiency (MCAD)

[Back to Disorders List ]

Elevation of C8 acylcarnitine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Medium/short-chain hydroxyl acyl-CoA dehydrogenase deficiency (MSCHAD)

[Back to Disorders List ]

Elevation of C4-OH Acylcarnitine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Maple Syrup Urine Disease
(MSUD)

[Back to Disorders List ]

Leucine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Methylmalonic Acidemia (MMA)

[Back to Disorders List ]

Elevation of C3 Acylcarnitine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Mucopolysaccharidosis type I (MPS I)

[Back to Disorders List ]

Absent/Reduced Alpha-L-iduronidase (IDUA) with Elevations in Dermatan Sulfate and Heparan Sulfate

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Multiple CoA carobxylase deficiency (MCD)

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

Family fact sheet
(PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Phenylketonuria (PKU)

[Back to Disorders List ]

Elevation of Phenylalanine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Pompe disease

[Back to Disorders List ]

Absent/Reduced Acid Alpha-Glucosidase (GAA)

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Propionic acidemia (PA)

[Back to Disorders List ]

Elevation of C3 Acylcarnitine

Family fact sheet
(PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

[Back to Disorders List ]

Elevation of C4 acylcarnitine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Severe combined immunodeficiency (SCID)

[Back to Disorders List ]

Severe combined Immunodeficiency (SCID)

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Sickle cell disease

[Back to Disorders List ]

FS, FSC, FSD, FSU

Sickle cell disease family fact sheet (PDF)

Sickle cell disease provider fact sheet (PDF)

Sickle Cell Disease Emergency Guidelines (PDF)

Sickle cell trait

[Back to Disorders List ]

  Hemoglobin and Sickle Cell Trait family fact sheets

Spinal muscular atrophy (SMA)

[Back to Disorders List ]

SMN1 absent

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Tyrosinemia type I (TYR-I)

[Back to Disorders List ]

Elevation of Tyrosine and Succinylacetone

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

Tyrosinemia type II and III (TYR-II and TYR-III)

[Back to Disorders List ]

Elevation of Tyrosine with Normal Succinylacetone

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

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

[Back to Disorders List ]

C14:1 +/- other long chain acylcarnitines

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

X-linked adrenoleukodystrophy (X-ALD)

[Back to Disorders List ]

Elevated C26:0-lysophosphatidylcholine (C26:0-LPC)

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG, SBCAD)

[Back to Disorders List ]

Elevation of C5 Acylcarnitine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)

3 Hydroxy 3 methylglutaryl CoA lyase deficiency (HMG)

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

Family fact sheet
(PDF)

Provider fact sheet (PDF)

Resource list (PDF)

3 Methylglutaconyl CoA hydratase deficiency (3MGA)

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

Family fact sheet
(PDF)

Provider fact sheet (PDF)

Resource list (PDF)

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

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

Family fact sheet (PDF)

Provider fact sheet (PDF)

Resource list (PDF)