BabelNet

bn:00002503n

Noun Concept

Categories: Rare diseases, Amino acid metabolism disorders, Skin conditions resulting from errors in metabolism, Autosomal recessive disorders

alkaptonuria alcaptonuria Black urine disease AKU Alcaptonurea

A rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine WordNet 3.0

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A rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine WordNet 3.0 & Open English WordNet

Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase ; if a person inherits an abnormal copy from both parents, the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Wikipedia

Amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct Wikidata

A rare inherited genetic disorder of phenylalanine and tyrosine metabolism, causing the accumulation and eventual excretion of alkapton. Wiktionary

Genetic disorder causing the accumulation of alkapton. Wiktionary (translation)

IS A

GENETIC ASSOCIATION

HEALTH SPECIALTY

WordNet 3.0 & Open English WordNet

alkaptonuria, alcaptonuria