alcaptonuria


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Related to alcaptonuria: tyrosinemia, ochronosis
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Noun1.alcaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urinealcaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
metabolic disorder - a disorder or defect of metabolism
References in periodicals archive ?
Studies of Alcaptonuria: Inheritance of 47 Cases in Eight Highly Inter-related Dominican Kindreds.
En el caso de la tirosinemia, esta puede ser de varios tipos: tipo I (hepatorenal), tipo II (oculocutanea), tipo III, alcaptonuria o Hawkinsinuria, que son causadas por desordenes geneticos de diferentes enzimas de la ruta metabolica de la tirosina.
There are a number of causes for even darker, that is, black urine: iron, laxatives (cascara/senna), rhabdomyolysis, alpha-methyldopa, cresol, L-dopa, metronidazole, nitrofurantoin, methocarbamol, sorbitol, alcaptonuria, porphyria, and metastatic melanoma.
The authors thank the alkaptonuric patient who generously donated her aortic valve for the present study and AimAKU (Associazione Italiana Malati di Alcaptonuria, ORPHA263402).
The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem 1958;230:251-60.
Alcaptonuria (black urine disease) is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism with hiperpigmentation of skin, sclera, cartilages, degenerative ochronic arthropathies.