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Answer for the clue "A rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine ", 12 letters:
alkaptonuria

Word definitions for alkaptonuria in dictionaries

Wikipedia Word definitions in Wikipedia
Alkaptonuria ( black urine disease , black bone disease , or alcaptonuria ) is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine , which occur in protein. It is caused by a mutation in the HGD ...

Wiktionary Word definitions in Wiktionary
n. (context medicine English) A rare inherited genetic disorder of phenylalanine and tyrosine metabolism, causing the accumulation and eventual excretion of alkapton.

WordNet Word definitions in WordNet
n. a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine [syn: alcaptonuria ]