Hawkinsinuria

Infobox_Disease
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Caption = Hawkinsin
DiseasesDB = 29836
ICD10 =
ICD9 =
ICDO =
OMIM = 276710
OMIM_mult = OMIM2|140350
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D020176

Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal dominant metabolic disorder affecting the metabolism of the sulfur amino acid hawkinsin.cite journal |author=Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F |title=Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria |journal=Mol Genet Metab. |volume=71 |issue=3 |pages=506–510 |year=2000 |pmid=11073718 |doi=10.1006/mgme.2000.3085 ]

It is characterized by transient metabolic acidosis and tyrosinemia.

ee also

* 4-Hydroxyphenylpyruvate dioxygenase

References