meaning of Alkaptonuria

Alkaptonuria meaning in Medical Dictionary

an inherited metabolic disorder considering lack of the chemical homogentisic acid (HGA) dioxygenase. Deficiency of this chemical causes the 3 cardinal top features of alkaptonuria (the clear presence of homogentisic acid within the urine), ochronosis (bluish-black pigmentation in connective structure), and joint disease. Urine that turns dark is a characteristic function.

Alkaptonuria meaning in General Dictionary

an uncommon recessive metabolic anomaly marked by ochronosis together with presence of alkapton into the urine