Hawkinsinuria

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Hawkinsinuria
Hawkinsin.png
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.

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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