title: [Alkaptonuria: a rare metabolic disorder. A report of two cases in siblings].
abstract: Alkaptonuria is a rare metabolic condition caused by congenital homogentisate oxidase deficiency of recessive inheritance. Homogentisate polymers are accumulated and cause urine darkening, brown pigmentation of connective tissue, articular cartilage pathology. The authors present clinical picture, pathogenesis, diagnostic and therapeutic possibilities in patients with alkaptonuria. Two siblings with alkaptonuria are described.
authors.affiliation: III Klinika Chorób Dzieci Akademii Medycznej w Białymstoku.
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Matuszewska
authors.forename: Maciej
authors.initials: M
authors.lastname: Kaczmarski
authors.forename: Jolanta
authors.initials: J
authors.lastname: Wasilewska
authors.forename: Urszula
authors.initials: U
authors.lastname: Daniluk
authors.forename: Aleksander
authors.initials: A
authors.lastname: Krasnow
authors.forename: Bozena
authors.initials: B
authors.lastname: Mikołuć
mesh_terms: D000474:Alkaptonuria / Q000175:diagnosis* / Q000652:urine; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase; D006801:Humans; D007223:Infant; D008297:Male; D010105:Oxygenases / Q000172:deficiency / Q000652:urine
chemical_list: D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase