Medical Journal of Dr. D.Y. Patil University (Jan 2015)
Alkaptonuria: Case report
Abstract
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. Herein, we are reporting a classical case of alkaptonuria with extensive skin pigmentation and skeletal involvement. Histopathological examination also revealed classical ochre-colored deposits in dermis.
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