hawkinsinuria

hawkinsinuria: haw·kin·sin·u·ria (haw″kin-sin-uґre-ə) a rare autosomal dominant disorder caused by heterozygous mutation in the HPD gene (locus: 12q24-qter), which encodes 4-hydroxyphenylpyruvate dioxygenase, an enzyme important in tyrosine catabolism. It is characterized by excretion of hawkinsin in urine, metabolic acidosis, and failure to thrive in infancy; hypertyrosinemia is absent or minimal. Cf. tyrosinemia type III.

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Hawkinsinuria — Infobox Disease Name = PAGENAME Caption = Hawkinsin DiseasesDB = 29836 ICD10 = ICD9 = ICDO = OMIM = 276710 OMIM mult = OMIM2|140350 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D020176 Hawkinsinuria, also called 4 Alpha… … Wikipedia
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