| Congenital disorders of amino acid metabolism | |
|---|---|
 | |
| The general structure of an α-amino acid, with the amino group on the left and the carboxyl group on the right | |
| Specialty | Endocrinology  |
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.
Types[edit]
- Alkaptonuria
- Aspartylglucosaminuria
- Branched-chain keto acid dehydrogenase kinase deficiency
- Methylmalonic acidemia
- Maple syrup urine disease
- Homocystinuria
- Tyrosinemia
- Trimethylaminuria
- Hartnup disease
- Biotinidase deficiency
- Ornithine carbamoyltransferase deficiency
- Carbamoyl-phosphate synthase I deficiency disease
- Citrullinemia
- Hyperargininemia
- Hyperhomocysteinemia
- Hypermethioninemia
- Hyperlysinemias
- Nonketotic hyperglycinemia
- Propionic acidemia
- Hyperprolinemia
Amino acid transport disorders[edit]
Amino acid storage disorders[edit]
References[edit]
External links[edit]