Alkaptonuric Ochronosis.
Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in urolithiasis. Excretion of excessive homogentisic acid in urine causes dark-colored urine on exposure to air. We present a case of alkaptonuria with multiple system involvement, who presented with lower urinary tract symptoms secondary to vesical and prostatic calculi.
Department of Urology, Christian Medical College and Hospital, Vellore, Tamilnadu, India. Electronic address: dronkarsingh@gmail.com.
Onkar
O
Singh
Department of Urology, Christian Medical College and Hospital, Vellore, Tamilnadu, India.
Rajadoss
R
Muthukrishna Pandian
Department of Urology, Christian Medical College and Hospital, Vellore, Tamilnadu, India.
Nitin
N
Sudhakar Kekre
D000474:Alkaptonuria / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009794:Ochronosis / Q000150:complications / Q000175:diagnosis*