urocanic aciduria
UROCD
related
encephalopathy due to urocanase deficiency
exact
urocanase deficiency
related
urocanic aciduria
exact
urocanic aciduria (disease)
exact
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.
MONDO:0019228
inborn disorder of histidine metabolism
is_a