urocanic aciduria
Findings
No curated finding names urocanic aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010167), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Action tremorHPOHP:0002345
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
Show the remaining 2
- Hyperactive deep tendon reflexesHPOHP:0006801
- Very frequent (80% to 99% of cases)
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UROC1HGNC:26444
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Disputed Evidence · G2P · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: urocanic aciduria
- Also called
- encephalopathy due to urocanase deficiencyurocanic aciduria (disease)