[Alkaptonuria: a rare metabolic disorder. A report of two cases in siblings].
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.
Matuszewska
Elzbieta
E
III Klinika Chorób Dzieci Akademii Medycznej w Białymstoku.
Kaczmarski
Maciej
M
Wasilewska
Jolanta
J
Daniluk
Urszula
U
Krasnow
Aleksander
A
Mikołuć
Bozena
B
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
D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase