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Clinical Findings in a Patient with Alkaptonuria

Specialty:

Genetics

Objective:

ICD-10:

Description:

Alkaptonuria is a inherited metabolic disorder in the degradation pathway of tyrosine, which results in an excess of homogentisic acid. The accumulation of the homogentisic acid in connective tissue and its excretion in the urine account for many of its clinical features.

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