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Pediatrics Inborn Errors of Metabolism 46b6e5f4

Oochronosis is found in:

A
Alkaptonuria
B
Tyrosinemia
C
Phenylketonuria
D
Homocystinuria
High-Yield Explanation
a. Alkaptonuria(Ref: Nelson's 20/e p 636, Ghai 8/e p 652)Ochronosis (dark spot on sclera/ear cartilage) is seen in Alkaptonuria which is an autosomal recessive disorder due to deficiency of enzyme homogentisic acid oxidase.

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