Posts Tagged ‘Ochronose endogène (alcaptonurie)’
Exogenous Ochronosis
Friday, December 13th, 2013Endogenous ochronosis (also called alcaptonuria) is a rare autosomal regressive disorder where there is enzymatic deficiency of homongentisic acid oxydase (AHG). This results in accumulation of AHG which is oxydized and polymerized in a substance close to melanin called benzoquinone acetic acid (ABQA). Its accumulation in the skin results in the clinical pigmentation. The […]