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Urocanic aciduria

rare

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.

Identifiers
MONDO:0010167 OMIM:276880Orphanet:210128
Causal genes
UROC1
Part of
Inborn disorder of histidine metabolism
Also known as
encephalopathy due to urocanase deficiency · urocanase deficiency · urocanic aciduria (disease) · UROCD

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