urocanic aciduria
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
UROCD
related
encephalopathy due to urocanase deficiency
exact
urocanase deficiency
related
urocanic aciduria
exact
urocanic aciduria (disease)
exact