Open AccessAlkaptonuria: Case report
Author(s) -
Swapna S Khatu,
Yuvraj E More,
Divyank Vankawala,
Deepali Chavan,
Neeta R Gokhale
Publication year - 2015
Publication title -
medical journal of dr. d y patil university/medical journal of dr. d.y. patil university
Language(s) - English
Resource type - Journals
eISSN - 2278-7119
pISSN - 0975-2870
DOI - 10.4103/0975-2870.148860
Subject(s) - alkaptonuria , homogentisic acid , ochronosis , tyrosine , dermatology , medicine , biochemistry , chemistry
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