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DeutschCongenital disorders of amino acid metabolism
| Congenital disorders of amino acid metabolism | |
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| 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
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