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Hawkinsinuria

 
Wikipedia: Hawkinsinuria
Hawkinsinuria
Classification and external resources

Hawkinsin
OMIM 276710 140350
DiseasesDB 29836
MeSH [1]

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.

See also

References

  1. ^ 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. 

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Wikipedia. This article is licensed under the Creative Commons Attribution/Share-Alike License. It uses material from the Wikipedia article "Hawkinsinuria" Read more