IEMbase 0046: UROC1-related urocanase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 46 |
| Nosology | 1.10.02.01 |
| Gene | UROC1 |
| External IDs | OMIM:276880 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None; fuzzy neighbor Hereditary_Orotic_Aciduria.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive UROC1-related urocanase deficiency, also named urocanic aciduria. The biochemical profile is increased urinary urocanic acid and increased urinary urocanoylglycine across all recorded ages.
The characteristic clinical block records no clinical significance, and IEMbase lists no treatments.
DisMech phenotype coverage
There is no local DisMech entry for UROC1 deficiency, urocanase deficiency, or urocanic aciduria.
The fuzzy neighbor Hereditary_Orotic_Aciduria.yaml is a false positive. That
entry is UMPS-related pyrimidine biosynthesis disease with urinary orotic acid
overexcretion, megaloblastic anemia, developmental delay, and failure to thrive.
Urocanic acid and orotic acid are different metabolites in different pathways.
Concordance and completeness
Judgement: true unmapped record. Local DisMech has no UROC1/histidine catabolism disease entry.
The manual boundary is straightforward: do not map urocanic aciduria to hereditary orotic aciduria. The names are visually similar, but the genes, metabolites, and clinical interpretations differ.
Curation actions
- Keep the record unmapped.
- Do not map to hereditary orotic aciduria.
- If curated later, keep the entry narrow unless additional evidence supports clinical manifestations beyond the benign biochemical phenotype in IEMbase.