0-9
- 2,4 Dienoyl-CoA reductase deficiency
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylglutaconic aciduria
A
B
- Beta-ketothiolase deficiency
- Biopterin defect in cofactor biosynthesis
- Biopterin defect in cofactor regeneration
- Biotinidase deficiency
C
- Carbamoyl phosphate synthetase I deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine-acylcarnitine translocase deficiency
- Citrullinemia, type I
- Citrullinemia, type II
- Classic galactosemia
- Classic phenylketonuria
- Congenital adrenal hyperplasia
- Congenital cytomegalovirus
- Congenital hypothyroidism
- Congenital toxoplasmosis
- Critical congenital heart disease
- Cystic fibrosis
D
E
F
G
- Galactoepimerase deficiency
- Galactokinase deficiency
- Gaucher disease
- Glucose-6-phosphate dehydrogenase deficiency
- Glutamate formiminotransferase deficiency
- Glutaric acidemia type I
- Glutaric acidemia type II
- Glutathione synthetase deficiency
- Guanidinoacetate methyltransferase deficiency
- Gyrate atrophy of the choroid and retina
H
- Hemoglobin trait/carrier
- Holocarboxylase synthetase deficiency
- Homocystinuria
- HSD10 disease
- Human immunodeficiency virus
- Hypermethioninemia
- Hyperprolinemia