List of Disorders - Iowa Newborn Screening Panel 02/12/2024
AMINO ACIDEMIAS/UREA CYCLE
- (ASA) Argininosuccinic aciduria
- (CIT) Citrullinemia, type 1 or ASA Synthetase Deficiency
- (HCY) Homocystinuria (cystathionine beta synthetase)
- (MSUD) Maple Syrup Urine Disease
- (PKU) Classic Phenylketonuria
- (TYR-1) Tyrosinemia, type I
ORGANIC ACIDEMIAS
- (GA-1) Glutaric acidemia type I
- (HMG) 3-Hydroxy 3-methylglutaric aciduria
- (IVA) Isovaleric acidemia
- (3-MCC) 3-Methylcrotonyl-CoA carboxylase
- (Cbl-A,B) Methylmalonic acidemia (cobalamin disorders, vitamin B12 disorders)
- (βKT) βeta-Ketothiolase
- (MUT) Methylmalonic Acidemia (methylmalonyl-CoA mutase)
- (PROP) Propionic acidemia
- (MCD) Holocarboxylase synthase
FATTY ACID OXIDATION DISORDERS
- (CUD) Carnitine uptake defect (Carnitine transport defect)
- (LCHAD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase
- (MCAD) Medium chain acyl-CoA dehydrogenase
- (TFP) Trifunctional protein deficiency
- (VLCAD) Very long-chain acyl-CoA dehydrogenase
LYSOSOMAL STORAGE DISORDERS (LSDs)
- (MPS I) Mucopolysaccharidosis Type I
- Pompe Disease
ENDOCRINE DISORDERS
- (CAH) Congenital adrenal hyperplasia
- (CH) Primary Congenital hypothyroidism
HEMOGLOBINOPATHIES
- (Hb SS) S,S Disease (Sickle Cell Anemia)
- (Hb S/C) S,C Disease
- (HB S/βTh) S, βeta-thalassemia
OTHER DISORDERS
- (BIOT) Biotinidase deficiency
- (CF) Cystic Fibrosis
- (GALT) Classic Galactosemia
- (SCID) Severe Combined Immunodeficiency
- (SMA) Spinal Muscular Atrophy
- (XALD) X-Linked Adrenoleukodystrophy
