This document discusses alkaptonuria, a rare genetic disorder characterized by the absence of the enzyme homogentisate oxidase. This causes homogentisic acid to accumulate in tissues and be excreted in urine, turning it dark. Inside the body, homogentisic acid is converted to alkapton, which deposits in bones, ears, and nose, causing a condition called ochronosis and arthritis in people over 30, though dark urine is present from birth. The condition is not dangerous, so treatment is not required, but a low-protein diet is recommended.

1. Pragnesh Patel

2.  First describe in 1649 by Lusinatus, 1/10,000
person .
 Here, the enzyme homogentisate oxidase is
missing. So Homogentisate accumulate in/at
tissue & blood and is lost in urine.
 Homogentisate onstanding is oxidized to
quinone which gives brown color to the urine.
Thus , is also known as coke disease.
 Inside the body , Homogentisate is converted
into alkaptone which deposites in the bones;
organs like nose, ear , etc…

3.  Such condition known as Ochronosis. The
person suffers from arthritis.
 Symptoms usually develop in people over 30
years old, although the dark discoloration of
the urine is present from birth.
 The condition is not so dangerous , so no
treatment required , only less protein diet
recommended.