Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). Disease data Classification Disease Synonyms Hereditary ochronosis Dziedziczna ochronoza Niedobór oksydazy kwasu homogentyzynowego Homogentisic acid oxidase deficiency ORPHA code 56 OMIM code 203500 ICD10 code E70.2 ICD11 code 5C50.10 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl