Medium-chain acyl-CoA dehydrogenase deficiency

Congenital hypothyroidism

Phenylketonuria

Biotinidase deficiency

Sickle-cell anemia (Hb SS disease)

Congenital adrenal hyperplasia (21-hydroxylase deficiency)

Isovaleric acidemia

Very long chain acyl-CoA dehydrogenase deficiency

Maple syrup (urine) disease

Classical galactosemia

Hb S β-thalassemia

Hb S C disease

Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency

Glutaric acidemia type I

3-Hydroxy-3-methyl glutaric aciduria

Trifunctional protein deficiency

Multiple carboxylase deficiency

Methylmalonic acidemia (mutase deficiency)

Homocystinuria (due to cystathionine β-synthase deficiency)

3-Methylcrotonyl-CoA carboxylase deficiency

Hearing loss

Methylmalonic acidemia

Propionic acidemia

Carnitine uptake defect

β-Ketothiolase deficiency

Citrullinemia

Argininosuccinic acidemia

Tyrosinemia type I

Cystic fibrosis