Disease name: Alkaptonuria, also known as "black urine disease" Affected populations: The exact prevalence of alkaptonuria worldwide is unknown. However, estimates suggest that the disease affects ...

Alkaptonuria (AKU) is a rare genetic disorder characterized by the accumulation of homogentisic acid (HGA) in the body due to a deficiency in the enzyme homogentisate 1,2-dioxygenase. This ...

A single-gene disorder identified by Archibald Garrod that is characterized by dark urine. Garrod first coined the term "inborn error in metabolism" to describe this ...