| 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. |
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.
Types
- 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
- Cystinuria
- Dicarboxylic aminoaciduria
- Hartnup disease
Amino acid storage disorders
References
External links
| Classification | D - ICD-10: E70-E72
- ICD-9-CM: 270
- MeSH: D000592
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Inborn error of amino acid metabolism (E70–E72, 270) |
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| [[Chemistry:Ketogenic amino K→acetyl-CoA]] | | Lysine/straight chain |
- Glutaric acidemia type 1
- type 2
- Hyperlysinemia
- Pipecolic acidemia
- Saccharopinuria
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| Leucine |
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Methylglutaconic aciduria 1
- Isovaleric acidemia
- Maple syrup urine disease
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| Tryptophan | |
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| G | | G→pyruvate→citrate | | Glycine |
- D-Glyceric acidemia
- Glutathione synthetase deficiency
- Sarcosinemia
- Glycine]]→Creatine: GAMT deficiency
- Glycine encephalopathy
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G→glutamate→
α-ketoglutarate | | Histidine |
- Carnosinemia
- Histidinemia
- Urocanic aciduria
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| Proline |
- Hyperprolinemia
- Prolidase deficiency
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| Glutamate/glutamine | |
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G→propionyl-CoA→
succinyl-CoA | | Valine |
- Hypervalinemia
- Isobutyryl-CoA dehydrogenase deficiency
- Maple syrup urine disease
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| Isoleucine |
- 2-Methylbutyryl-CoA dehydrogenase deficiency
- Beta-ketothiolase deficiency
- Maple syrup urine disease
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| Methionine |
- Cystathioninuria
- Homocystinuria
- Hypermethioninemia
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| General BC/OA |
- Methylmalonic acidemia
- Methylmalonyl-CoA mutase deficiency
- Propionic acidemia
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| G→fumarate | | [[Chemistry:PhenylPhenylalanine]]/tyrosine | | Phenylketonuria |
- 6-Pyruvoyltetrahydropterin synthase deficiency
- Tetrahydrobiopterin deficiency
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| Tyrosinemia |
- Alkaptonuria/Ochronosis
- Tyrosinemia type I
- Tyrosinemia type II
- Tyrosinemia type III/Hawkinsinuria
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| Tyrosine→Melanin |
- Albinism: Ocular albinism (1)
- Oculocutaneous albinism (Hermansky–Pudlak syndrome)
- Waardenburg syndrome
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| Tyrosine→Norepinephrine |
- Dopamine beta hydroxylase deficiency
- reverse: Brunner syndrome
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| G→oxaloacetate | Urea cycle/Hyperammonemia
(arginine
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Argininemia
Argininosuccinic aciduria
Carbamoyl phosphate synthetase I deficiency
Citrullinemia
N-Acetylglutamate synthase deficiency
Ornithine transcarbamylase deficiency/translocase deficiency
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Transport/
IE of RTT |
- Solute carrier family: Cystinuria
- Hartnup disease
- Iminoglycinuria
- Lysinuric protein intolerance
- Fanconi syndrome: Oculocerebrorenal syndrome]]
- Cystinosis
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| Other |
- 2-Hydroxyglutaric aciduria
- Aminoacylase 1 deficiency
- Ethylmalonic encephalopathy
- Fumarase deficiency
- Trimethylaminuria
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 | Original source: https://en.wikipedia.org/wiki/Congenital disorders of amino acid metabolism. Read more |
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