Oochronosis occurs in: (Repeat): (A) Alkaptonuria, (B) Isovaleric aciduria, (C) Phenyl ketonuria, (D) Tyrosinemia
Answer is A. Ans: A (Alkaptonuria) Ref: Harrison's Principles of Internal Medicine, 18th ed.Explanation:AlkaptonuriaAutosomal RecessiveDue to deficiency of homogentisic acid oxidaseClinical featuresOochronosisArthritisCardiac valve involvementCoronary artery calcification Pigmented heart valves, sclera, joint, skin & renal calculiUrine darkens on standingNitisinone used to reduce urinary excretion of homogentisic acid