| Amino acid transport disorder |
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| Specialty | Nephrology |
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Amino acid transport disorders are medical conditions associated with a failure of amino acids to be absorbed from the kidney or intestine.
An example is Hartnup disease.
References
External links
| Classification | D - ICD-10: E72.0
- ICD-9-CM: 270
- MeSH: D020157
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- Milne MD (1971). "Disorders of intestinal amino-acid transport". J Clin Pathol 5 (Suppl): 41–4. doi:10.1136/jcp.s3-5.1.41.
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/Amino acid transport disorder. Read more |
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