HAAO
Description
The HAAO gene, encoding the enzyme hydroxyacid oxidase, plays a critical role in fatty acid metabolism by catalyzing the oxidation of various hydroxyacids, including 2-hydroxyisovalerate, 2-hydroxybutyrate, and 2-hydroxyglutarate. This enzyme is primarily found in the peroxisomes, cellular organelles responsible for the breakdown of fatty acids. HAAO deficiency, caused by mutations in the HAAO gene, can lead to the accumulation of hydroxyacids in the body, resulting in various health complications.
Associated Diseases
Did you know?
HAAO deficiency is a rare genetic disorder with a prevalence of less than 1 in 100,000 individuals.
