Urocanic aciduria

MONDO:0010167

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), UROCD, urocanase deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Urocanic aciduria itself.

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↑ Inborn disorder of histidine metabolism (0)

Including sub-types (0) Tagged with Urocanic aciduria (0)

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