Hawkinsinuria
| Hawkinsinuria | |
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| Hawkinsin | |
| OMIM | 276710 140350 |
| DiseasesDB | 29836 |
| MeSH | D020176 |
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Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal dominant metabolic disorder affecting the metabolism of the sulfur amino acid hawkinsin.[1]
It is characterized by transient metabolic acidosis and tyrosinemia.
See also
References
- ↑ Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F (2000). "Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria". Mol Genet Metab. 71 (3): 506–510. doi:10.1006/mgme.2000.3085. PMID 11073718.