Core Conditions
- X-linked Adrenoleukodystrophy
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis I (MPS1)
- Propionic acidemia
- Methylmalonic acidemia (methylmalonyl-CoA mutase)
- Methylmalonic acidemia (cobalamin disorders)
- Isovaleric acidemia
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Hydroxy-3-methyglutaric aciduria
- Holocarboxylase synthase deficiency
- β-Ketothiolase deficiency
- Glutaric acidemia type I
- Carnitine uptake defect/carnitine transport defect
- Medium-chain acyl-CoA dehydrogenase deficiency
- Very long-chain acyl-CoA dehydrogenase deficiency
- Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
- Trifunctional protein deficiency
- Argininosuccinic aciduria
- Citrullinemia, type I
- Maple syrup urine disease
- Homocystinuria
- Classic phenylketonuria
- Tyrosinemia, type I
- Primary congenital hypothyroidism
- Congenital adrenal hyperplasia
- S,S disease (Sickle cell anemia)
- S, β-thalassemia
- S,C disease
- Biotinidase deficiency
- Cystic fibrosis
- Classic galactosemia
- Severe Combined Immunodeficiences
- Pompe Disease
Secondary Conditions
- Methylmalonic acidemia with homocystinuria
- Malonic acidemia
- Isobutyrylglycinuria
- 2-Methylbutyrylglycinuria
- 3-Methylglutaconic aciduria
- 2-Methyl-3-hydroxybutyric aciduria
- Short-chain acyl-CoA dehydrogenase deficiency
- Medium/short-chain L-3-hyrdroxy ACYL-CoA dehydrogenase deficiency
- Glutaric acidemia type II
- Medium-chain ketoacyl-CoA thiolase deficiency
- 2,4 Dienoyl-CoA reductase deficiency
- Carnitine palmitoyltransferase type I deficiency
- Carnitine palmitoyltransferase type II deficiency
- Carnitine acylcarnitine translocase deficiency
- Argininemia
- Citrullinemia, type II
- Hypermethioninemia
- Benign hyperphenylalaninemia
- Biopterin defect in cofactor biosynthesis
- Biopterin defect in cofactor regeneration
- Tyrosinemia, type II
- Tyrosinemia, type III
- Various other hemoglobinopathies
- Galactoepimerase deficiency
- Galactokinase deficiency
- T-cell related lymphocyte deficiencies
