Alkaptonuria: Case report

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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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Khatu, S. S., More, Y. E., Vankawala, D., Chavan, D., & Gokhale, N. R. (2015). Alkaptonuria: Case report. Medical Journal of Dr. D.Y. Patil University, 8(1), 84–86. https://doi.org/10.4103/0975-2870.148860

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