Urocanic aciduria
Urocanic aciduria
Definition
Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.
Also known as encephalopathy due to urocanase deficiency, urocanic aciduria, urocanic aciduria (disease) — per MONDO