Alkaptonuria (AKU)

Alkaptonuria, also known as homogentisic acid oxidase deficiency, is related to ochronosis and abdominal obesity-metabolic syndrome 1, and has symptoms including back pain An important gene associated with Alkaptonuria is HGD (Homogentisate 1,2-Dioxygenase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Nitisinone and Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are arthritis and joint stiffness