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urocanic aciduria

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking.
Mondo Term and Equivalent IDs
MONDO:0010167:  urocanic aciduria
GARD:0008539: 
MESH:C536479: 
Orphanet:210128: 
SCTID:60952007: 
UMLS:C0268514: