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.

Игры ⚽ Нужно решить контрольную?

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
Phenylketonuria — PKU redirects here. For other uses, see PKU (disambiguation). Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 … Wikipedia
Methylmalonic acidemia — Classification and external resources Methylmalonic acid ICD 10 E … Wikipedia
Homocystinuria — Classification and external resources Homocysteine ICD 10 E72 … Wikipedia
Cystinuria — Classification and external resources Chemical structure of cystine formed from L cysteine (under biological conditions) ICD 10 E … Wikipedia
Ornithine transcarbamylase deficiency — Classification and external resources Ornithine ICD 10 E … Wikipedia
Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 … Wikipedia
Trimethylaminuria — Classification and external resources Trimethylamine ICD 10 E88.8 … Wikipedia
Maple syrup urine disease — Classification and external resources Isoleucine (pictured above), leucine, and valine are the branched chain amino acids that build up in MSUD. ICD … Wikipedia
Cystinosis — Classification and external resources Chemical structure of cystine formed from L cysteine (under biological conditions) ICD 10 E … Wikipedia

Academic Dictionaries and Encyclopedias