Alcaptonuria

Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. more...

Causes

This is an autosomal recessive trait that is caused by a defect in the enzyme homogentisic acid oxidase (EC 1.13.11.5). The enzyme normally breaks down a toxic tyrosine byproduct, homogentisic acid (also called alkapton), which is harmful to bones and cartilage and is excreted in urine.

Symptoms

A distinctive characteristic of alkaptonuria is that urine exposed to air turns dark (or black) after several hours because of the homogentisic acid. In adulthood, persons suffering from alkaptonuria develop progressive arthritis (especially of the spine), due to its degenerative effects on bones and cartilage.

Diagnosis

Presumptive diagnosis can be made by adding sodium or potassium hydroxide to urine and observing the formation of a dark brown to black pigment on the surface layer of urine within 30 minutes to 1 hour. Diagnosis can be confirmed by demonstrating the presence of homogentisic acid in the urine. This may be done by paper chromatography and thin-layer chromatography (Seegmiller, 1998).

Treatment

Prevention is not possible and the treatment is aimed at ameliorating symptoms.

Read more at Wikipedia.org