Definition

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.

Synonyms

encephalopathy due to urocanase deficiency
high urine urocanic acid levels

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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urocanase deficiency

urocanase deficiency

Associated Genes

Associated Alleles

Associated Models