NBS List of Conditions & Fact Sheets

• Propionic Acidemia (PROP)
• Methylmalonic Acidemia (Methylmalonyl-CoA Mutase) (MUT)
• Methylmalonic Acidemia (Cobalamin disorders, Vitamin B12 Disorders) (Cbl A, B)
• Isovaleric Acidemia (IVA)
• 3-Methylcrotonyl-CoA carboxylase (3-MCC)
• 3-Hydroxy 3-Methylglutaric Aciduria (HMG)
• Holocarboxylase Synthase Deficiency (MCD)
• βeta-Ketothiolase Deficiency (βKT)
• Glutaric Acidemia, Type I (GA1)

• Carnitine Uptake Defect/Carnitine Transport Defect (CUD)
• Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
• Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
• Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
• Trifunctional Protein Deficiency (TFP)

• Argininosuccinic Aciduria (ASA)
• Citrullinemia, Type I or ASA Synthetase Deficiency (CIT)
• Maple Syrup Urine Disease (MSUD)
• Homocystinuria (Cystathionine Beta Synthetase) (HCY)
• Classic Phenylketonuria (PKU)
• Tyrosinemia, Type I (TYR I)

• Primary Congenital Hypothyroidism (CH)
• Congenital Adrenal Hyperplasia (CAH)

• S,S Disease (Sickle Cell Anemia) (Hb SS)
• S, βeta-Thalassemia (HB S/βTh)
• S,C Disease (Hb S/C)

• Biotinidase Deficiency (Metabolic Disorder) (BIOT)
• Critical Congenital Heart Disease (CCHD)
• Cystic Fibrosis (CF)
• Classic Galactosemia (GALT)
• Hearing Loss (HEAR) (Not mandated in ND)
• Severe Combined Immune Deficiency (SCID)
• Spinal Muscular Atrophy (SMA)
• Glycogen Storage Disease Type II (Pompe) (GSD II)
• Mucopolysaccharidosis Type I (MPS I)

• Methylmalonic Acidemia with Homocystinuria (Cbl C, D)
• Malonic Acidemia (MAL)
• 2-Methylbutyrylglycinuria (2MBG)
• 3-Methylglutaconic Aciduria (3MGA)
• 2-Methyl-3-Hydroxybutyric Aciduria (2M3HBA)

• Medium/short-chain L-3-hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
• Glutaric Acidemia, Type II (GA2)
• Medium-chain Ketoacyl-CoA Thiolase Deficiency (MCAT)
• Carnitine Palmitoyltransferase, Type I (CPT IA)
• Carnitine Palmitoyltransferase, Type II (CPT II)
• Carnitine Acylcarnitine Translocase Deficiency (CACT)

• Argininemia (ARG)
• Citrullinemia, Type II (CIT II)
• Hypermethioninemia (MET)
• Benign Hyperphenylalaninemia (H-PHE)
• Biopterin Defect in Cofactor Biosynthesis (BIOPT BS)
• Biopterin Defect in Cofactor Regeneration (BIOPT REG)
• Tyrosinemia, Type II (TYR II)
• Tyrosinemia, Type III (TYR III)

Various other Hemoglobinopathies (Var Hb)

T-cell related lymphocyte deficiencies

• Mucopolysaccharidosis Type II (MPS II)
• X-linked Adrenoleukodystrophy (X-ALD)
• Guanidinoacetate Methyltransferase Deficiency (GAMT)
• Krabbe Disease (Low Galactocerebrosidase, GALC)

• 2,4 Dienoyl-CoA Reductase Deficiency (DE RED)
• Galactoepimerase Deficiency (GALE)
• Galactokinase Deficiency (GALK)
• Isobutyrylglycinuria (IBG)
• Short-chain acyl-CoA Dehydrogenase (SCAD)