Hawkinsinuria
From Wikipedia, the free encyclopedia
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.
Hawkinsinuria has an autosomal dominant pattern of inheritance.
[edit] See also
[edit] 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.
