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

ASA family fact sheet
(PDF)

ASA provider fact sheet (PDF)

Beta ketothiolase deficiency (BKT)

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

BKT family fact sheet
(PDF)

BKT provider fact sheet (PDF)

Biotinidase deficiency (BIO)

[Back to Disorders List ]

Absent/Reduced Biotinidase (BTD)

Biotinidase Deficiency family fact sheet (PDF)

Biotinidase Deficiency provider fact sheet (PDF)

Biotinidase deficiency (BIO) - borderline

[Back to Disorders List ]

Reduced Biotinidase (BTD)

Biotinidase Deficiency provider fact sheet (PDF)

Carnitine uptake defect (CUD)

[Back to Disorders List ]

C0 (free carnitine) and other Acylcarnitines

CUD/CTD family fact sheet (PDF)

CUD/CTD provider fact sheet (PDF)

Citrullinemia type I (CIT-I)

[Back to Disorders List ]

Elevated Citrulline

CIT-I family fact sheet
(PDF)

CIT-I provider fact sheet (PDF)

Citrullinemia type II (CIT-II)

[Back to Disorders List ]

Elevated Citrulline

CIT-II family fact sheet
(PDF)

CIT-II provider fact sheet (PDF)

Congenital adrenal hyperplasia (CAH)

[Back to Disorders List ]

Elevation of 17-hydroxyprogesterone (17-OHP)

CAH family fact sheet (PDF)

CAH provider fact sheet (PDF)

Congenital hypothyroidism (CH)

[Back to Disorders List ]

Elevation of Thyroid Stimulating Hormone (TSH)

Congenital Hypothyroidism family fact sheet (PDF)

Congenital Hypothyroidism provider fact sheet (PDF)

Congenital hypothyroidism (CH) - borderline

[Back to Disorders List ]

Borderline elevation of Thyroid Stimulating Hormone (TSH)

Borderline Congenital Hypothyroidism Results family fact sheet (PDF)

Borderline Congenital Hypothyroidism Results provider fact sheet (PDF)

Cystic Fibrosis - 1 Mutation

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

CF 1M family fact sheet (PDF)

CF 1M medical fact sheet (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 medical fact sheet (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 medical fact sheet (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 medical fact sheet (PDF)

Galactosemia

[Back to Disorders List ]

Absent/Reduced GALT

Galactosemia (GALT) family fact sheet (PDF)

Galactosemia (GALT) medical fact sheet (PDF)

Galactokinase (GALK) deficiency

Galactose epimerase (GALE) deficiency

[Back to Disorders List ]

Elevated TGAL with normal GALT

Galactosemia (TGAL) family fact sheet (PDF)

Galactosemia (TGAL) medical fact sheet (PDF)

Glutaric acidemia type I (GA-I)

[Back to Disorders List ]

Elevation of C5-DC Acylcarnitine

GA1 family fact sheet (PDF)

GA1 provider fact sheet (PDF)

Hemoglobin C disease

[Back to Disorders List ]

FC

Hemoglobin C disease family fact sheet (PDF)

Hemoglobin C disease provider fact sheet (PDF)

Hemoglobin E disease

[Back to Disorders List ]

FE

Hemoglobin E disease family fact sheet (PDF)

Hemoglobin E disease provider fact sheet (PDF)

Hemoglobin SC disease

[Back to Disorders List ]

FSC

Hemoglobin SC disease family fact sheet (PDF)

Hemoglobin SC disease provider fact sheet (PDF)

Homocystinuria (HCY)

[Back to Disorders List ]

Elevation of Methionine

HCY disease family fact sheet (PDF)

HCY disease provider fact sheet (PDF)

Hypermethioninemia (MET)

[Back to Disorders List ]

Elevation of Methionine

MET disease family fact sheet (PDF)

MET disease provider fact sheet (PDF)

Hyperphenylalaninemia (H-PHE)

[Back to Disorders List ]

Elevation of Phenylalanine

H-PHE family fact sheet
(PDF)

H-PHE provider fact sheet (PDF)

Isovaleric acidemia (IVA)

[Back to Disorders List ]

Elevation of C5 Acylcarnitine

IVA family fact sheet (PDF)

IVA provider fact sheet (PDF)

Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

[Back to Disorders List ]

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

LCHADD family fact sheet (PDF)

LCHADD provider fact sheet (PDF)

Medium-chain acyl-COA dehydrogenase deficiency (MCAD)

[Back to Disorders List ]

Elevation of C8 acylcarnitine

MCAD family fact sheet (PDF)

MCAD provider fact sheet (PDF)

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

[Back to Disorders List ]

Elevation of C4-OH Acylcarnitine

MSCHAD family fact sheet (PDF)

MSCHAD provider fact sheet (PDF)

Maple Syrup Urine Disease
(MSUD)

[Back to Disorders List ]

Leucine

MSUD family fact sheet (PDF)

MSUD provider fact sheet (PDF)

Methylmalonic Acidemia (MMA)

[Back to Disorders List ]

Elevation of C3 Acylcarnitine

MMA family fact sheet (PDF)

MMA provider fact sheet (PDF)

Mucopolysaccharidosis type I (MPS I)

[Back to Disorders List ]

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

MPS I family fact sheet (PDF)

MPS I provider fact sheet (PDF)

Multiple CoA carobxylase deficiency (MCD)

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

MCD family fact sheet
(PDF)

MCD provider fact sheet (PDF)

Phenylketonuria (PKU)

[Back to Disorders List ]

Elevation of Phenylalanine

PKU family fact sheet (PDF)

PKU provider fact sheet (PDF)

Pompe disease

[Back to Disorders List ]

Absent/Reduced Acid Alpha-Glucosidase (GAA)

Pompe family fact sheet (PDF)

Pompe provider fact sheet (PDF)

Propionic acidemia (PA)

[Back to Disorders List ]

Elevation of C3 Acylcarnitine

PA family fact sheet
(PDF)

PA provider fact sheet (PDF)

Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

[Back to Disorders List ]

Elevation of C4 acylcarnitine

SCAD family fact sheet (PDF)

SCAD provider fact sheet (PDF)

Severe combined immunodeficiency (SCID)

[Back to Disorders List ]

Severe combined Immunodeficiency (SCID)

SCID family fact sheet (PDF)

SCID provider fact sheet (PDF)

Specialists resource (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

SMA family fact sheet (PDF)

SMA provider fact sheet (PDF)

Specialists resource (PDF)

Tyrosinemia type I (TYR-I)

[Back to Disorders List ]

Elevation of Tyrosine and Succinylacetone

TYR-I family fact sheet (PDF)

TYR-I provider fact sheet (PDF)

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

[Back to Disorders List ]

Elevation of Tyrosine with Normal Succinylacetone

TYR-II and TYR-III family fact sheet (PDF)

TYR-II and TYR-III provider fact sheet (PDF)

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

[Back to Disorders List ]

C14:1 +/- other long chain acylcarnitines

VLCAD family fact sheet (PDF)

VLCAD provider fact sheet (PDF)

X-linked adrenoleukodystrophy (X-ALD)

[Back to Disorders List ]

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

X-ALD family fact sheet (PDF)

X-ALD provider fact sheet (PDF)

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

[Back to Disorders List ]

Elevation of C5 Acylcarnitine

SBCAD family fact sheet (PDF)

SBCAD provider fact sheet (PDF)

3 Hydroxy 3 methylglutaryl CoA lyase deficiency (HMG)

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

HMG family fact sheet
(PDF)

HMG provider fact sheet (PDF)

3 Methylglutaconyl CoA hydratase deficiency (3MGA)

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

3MGA family fact sheet
(PDF)

3MGA provider fact sheet (PDF)

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

[Back to Disorders List ]

Elevation of C5-OH Acylcarnitine

3-MCC family fact sheet (PDF)

3-MCC provider fact sheet (PDF)