Definition for Alcaptonuria

Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. more

Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. 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.A distinctive characteristic of alkaptonuria is that urine or ear wax exposed to air turns reddish or inky black, depending on what one has eaten, after several hours because of the build-up of homogentisic acid. Similarly, urine exposed to air can become dark; this is most obvious in young children still in diapers. In adulthood, but usually not before age forty, persons suffering from alkaptonuria develop progressive arthritis (especially of the spine), due to the long-term buildup of homogentisate in bones and cartilage. The urine is malodorous. less