Number of the records: 1  

alkaptonúria

  1. Record numberd000474
    Date06.06.2025
    TypeM
    Topical termalkaptonúria
    Other termSlovak (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
    UDCC16.320.565.100.187C18.452.648.100.187
    NoteAn 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.
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Number of the records: 1  

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