urocanase deficiency
urocanase deficiency
An inborn error of histidine metabolism (OMIM:276880) resulting in urocanic aciduria and neurologic disease, including mental retardation, ataxia, episodic aggressive behaviour or exaggerated affection-seeking.Molecular pathology
Caused by defects of UROC1, which encodes urocanate hydratase, an enzyme that metabolises urocanic acid to formiminoglutamic acid.