alkaptonuria lietuviškai
alkaptonuria tarimas /alˌkaptəˈnjʊərɪə/
alkaptonuria vertimas
- alkaptonurija
Paaiškinimas anglų kalba
- a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
- An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
Daugiau paaiškinimų