آلکاپتونوری

Also known as Homogentisate 1,2-dioxygenase deficiency, alcaptonuria, deficiency of homogentisicase, Homogentisic Acid Oxidase Deficiency, AKU, Alkaptonuric ochronosis, ochronosis, hereditary, hereditary ochronosis

Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form alkapton are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves, as well as precipitating as kidney stone