Congenital disorders of amino acid metabolism
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(Redirected from Inborn errors 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.
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E70-E72 |
| ICD-9-CM | 270 |
| Patient UK | Congenital disorders of amino acid metabolism |
| MeSH | D000592 |
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.
Types include:
- Alkaptonuria
- Aspartylglucosaminuria
- 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
Amino acid storage disorders
External links
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