Alkaptonuria: a rare genetic disorder diagnosed in an elderly female

Abstract

Alkaptonuria is a rare autosomal recessive disorder of phenylalanine/ tyrosine metabolism. We present a case report of a 78-year-old woman treated for urosepsis complicated due to renal stones and found to have alkaptonuria. Alkaptonuria is common among children and young adults but in our case it was detected in an elderly female.

Keywords

• Alkaptonuria
• Homogentisic acid
• Ochronosis
• Vitamin C
• Nitisinone