Alkaptonuria: Case report

Medical Journal of Dr. D.Y. Patil University

关键词: Alkaptonuria;    ochronosis;    homogentisic acid;   

DOI  :  10.4103/0975-2870.148860

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown