Conditions / Genetic
urocanase deficiency
info · Genetic
A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosom
A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3.
Signs and symptoms
- Broad-based gait
- Action tremor
- Truncal ataxia
- Moderate intellectual disability
- Dysmetria
- Gait ataxia
- Ataxia
- Urocanic aciduria
- Nystagmus
- Short stature
Also known as: UROCD; encephalopathy due to urocanase deficiency; high urine urocanic acid levels; urocanate hydratase deficiency; urocanic aciduria