Alkaptonuria - an atypical manifestation or management?

Alkaptonuria is a rare autosomal recessive disease, in which the metabolism of homogentisic acid is defective. Homogentisate ۱, ۲- dioxygenase deficiency results in homogentisic aciduria, ochronosis, and ochronotic arthritis, in which pigments precipitate in joints especially those under pressure like vertebrae. In this case of isolated alkaptonuria, we faced an atypical manifestation of alkaptonuria in a seven-year-old girl, which had not been previously detected by our colleagues

Keywords:

Alkaptonuria , Auditory problems , neurological disorder