Number of the records: 1
alkaptonúria
Record number d000474 Date 06.06.2025 Type M Topical term alkaptonúria Other term Slovak (Pseudonym) choroba čiernych kostí
Slovak (Pseudonym) defekt oxidázy kyseliny homogentisovej
Slovak (Pseudonym) deficit oxidázy kyseliny homogentisovej
Slovak (Pseudonym) nedostatok oxidázy kyseliny homogentisovej
Slovak (Pseudonym) acidúria kyseliny homogentisovej
Slovak (Pseudonym) homogentisúria
Slovak (Pseudonym) acidúria homogentisová
See also (Skutočné meno) homogentizát 1,2-dioxygenáza
(Later heading) moč
(Later heading) homogentizát 1,2-dioxygenáza
UDC C16.320.565.100.187C18.452.648.100.187 Note 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. subject heading
Number of the records: 1