ALKAPTONURIA Report of Three Cases from one Family Tree

Abstract

Alkaptonuria is a rare disease characterised by the homogentisic acid in the urine, waferlike calcification of the intervertebral discs and ochronosis.
We have had opportunity recently to observe three patients with alkaptonuria from one family tree.
They have complained low back pain and stiffness for many years ago, and have noticed their urine change to dark, but on the inspection, they have not any ochronosis.
Radiographically, their spines have typical changes of alkaptonuria.
We have confirmed the homogentisic acid in their urines with paper chromatography.