Blood Spot Screening Disorder Fact Sheets

Blood spot disorders screened for in Minnesotan newborns 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 fact sheets with disorder-specific information and next steps for both families and providers following an abnormal newborn screening result. Also, specialist contact lists are provided for specific cases where the Newborn Screening Program recommends the primary care provider consult with a specialist for further follow-up recommendations.

For more general information about newborn screening, see our For Families and For Providers sections.

Click on the letter to go to the disorder you are looking for:
Numerical  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

• 2-Methyl-3-hydroxybutyric acidemia (2M3HBA)
• 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)
• 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
• 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
• 3-Methylglutaconyl-CoA hydratase deficiency (3MGA)

A

• Alpha thalassemia
• Arginase deficiency: See argininemia (ARG)
• Argininemia (ARG)
• Argininosuccinic acidemia (ASA)
• Argininosuccinate lyase (AKA) deficiency: See argininosuccinic acidemia (ASA)

B

• Beta-ketothiolase deficiency (BKT)
• Biopterin defect in cofactor biosynthesis (BIOPT-BS)
• Biopterin defect in cofactor regeneration (BIOPT-REG)
• Biotinidase deficiency (BTD)
• Branched-chain alpha-keto acid dehydrogenase (BCKD) deficiency: See maple syrup urine disease (MSUD)

C

• Carnitine acylcarnitine translocase deficiency (CACT)
• Carnitine palmitoyltransferase deficiency type 1 (CPT-I)
• Carnitine palmitoyltransferase deficiency type 2 (CPT-II)
• Carnitine transport defect: See carnitine uptake defect (CUD)
• Carnitine uptake defect (CUD)
• CFTR-related metabolic syndrome
• Citrullinemia type I (CIT-I)
• Citrullinemia type II (CIT-II)
• Cobalamin A, B deficiencies: See methylmalonic acidemia (cobalamin disorders) (MMA)
• Cobalamin C, D, F deficiencies: See methylmalonic acidemia with homocystinuria (Cbl, C, D, F)
• Congenital adrenal hyperplasia (CAH)
• Congenital cytomegalovirus (cCMV)
• Congenital hypothyroidism (CH)
• Cystic fibrosis (CF)
• Cystathionine beta-synthase (CBS) deficiency: See homocystinuria (HCY)

D

• Dienoyl-CoA reductase deficiency (DE-RED)
• Duchenne muscular dystrophy (DMD)

G

• Galactoepimerase deficiency (GALE)
• Galactokinase deficiency (GALK)
• Galactosemia (GALT)
• Glutaric acidemia type 1 (GA-I)
• Glutaric acidemia type 2 (GA-II)
• Glycine N-methyltransferase (GNMT) deficiency: See hypermethioninemia (MET)
• Glycogen storage disease Type II: See Pompe disease (POMPE)
• Guanidinoacetate Methyltransferase (GAMT) deficiency

H

• Hemoglobin C disease (FC)
• Hemoglobin E disease (FE)
• Hemoglobin SC disease (FSC)
• Hemoglobin trait
• Hepatorenal tyrosinemia: See tyrosinemia type 1 (TYR-I)
• HMG-CoA lyase deficiency: See 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
• Holocarboxylase synthetase deficiency: See multiple CoA carboxylase deficiency (MCD)
• Homocystinuria (HCY)
• Hurler-Scheie syndrome: See mucopolysaccharidosis type 1 (MPS I)
• Hypermethioninemia (MET)
• Hyperphenylalaninemia (HPHE)

I

• Isobutyryl-CoA dehydrogenase deficiency (IBD)
• Isobutyrylglycinuria (IBG): See Isobutyryl-CoA dehydrogenase deficiency (IBD)
• Isovaleric acidemia (IVA)

K

• Krabbe

L

• Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)

M

• Malonic acidemia (MAL)
• Malonyl-CoA decarboxylase (MCD) deficiency: See malonic acidemia (MAL)
• Maple syrup urine disease (MSUD)
• Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD)
• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
• Medium-chain keto acyl-CoA thiolase deficiency (MCKAT)
• Methylmalonic acidemia (cobalamin disorders) (MMA)
• Methylmalonic acidemia (mutase deficiency) (MUT)
• Methylmalonic acidemia with homocystinuria (Cbl, C, D, F)
• Methylmalonyl-CoA mutase deficiency: See methylmalonic acidemia (mutase deficiency) (MUT)
• Mucopolysaccharidosis type 1 (MPS I)
• Multiple acyl-CoA dehydrogenase deficiency (MADD): See glutaric acidemia Type 2 (GA-II)
• Multiple CoA carboxylase deficiency (MCD)

O

• Oculocutaneous tyrosinemia: See tyrosinemia type 2 (TYR-II)

P

• Phenylalanine hydroxylase (PAH) deficiency: See phenylketonuria (PKU)
• Phenylketonuria (PKU)
• PKU variant: See hyperphenylalaninemia (H-PHE)
• Pompe disease (POMPE)
• Propionic acidemia (PA)
• Proximal urea cycle defect (UCD)

S

• Severe combined immunodeficiency (SCID)
• Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
• Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency: See 2-methylbutyryl-CoA dehydrogenase deficiency (2MBG)
• Sickle cell disease (FS)
• Spinal muscular atrophy (SMA)

T

• T-cell lymphopenia
• Trifunctional protein deficiency (TFP)
• Tyrosinemia type 1 (TYR-I)
• Tyrosinemia type 2 (TYR-II)
• Tyrosinemia type 3 (TYR-III)

V

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

X

• X-linked adrenoleukodystrophy (X-ALD)