IEMbase 0160: UPB1-related beta-ureidopropionase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 160 |
| Nosology | 16.1.03.02 |
| Gene | UPB1 |
| External IDs | OMIM:613161; OMIM:606673; ORPHA:65287 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | Beta-Ketothiolase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as UPB1-related beta-ureidopropionase deficiency. Treatability is marked unknown.
The biochemical rows are pyrimidine catabolism markers: increased plasma and urinary dihydrothymine, increased plasma and urinary dihydrouracil, increased plasma and urinary N-carbamyl-beta-alanine, and increased plasma N-carbamyl-beta-aminoisobutyric acid. The clinical rows are variable and include psychomotor delay, seizures, dystonia, hypotonia, speech disturbances, dysmorphic features, hypertelorism, and strabismus.
DisMech phenotype coverage
There is no local standalone UPB1/beta-ureidopropionase deficiency entry.
Beta-Ketothiolase_Deficiency.yaml is a false candidate. It is an ACAT1
disorder of isoleucine catabolism and ketone-body handling, with ketoacidotic
crises and isoleucine-derived organic acid markers. It does not model UPB1,
dihydropyrimidine catabolism, N-carbamyl-beta-alanine, dihydrothymine, or
dihydrouracil accumulation.
Concordance and completeness
Judgement: true local gap.
The generated candidate appears to be a broad organic-acid/neurologic neighbor rather than a disease match. IEMbase 160 is specifically a pyrimidine catabolism disorder with UPB1 and beta-ureidopropionase biochemical markers. Current DisMech coverage does not capture it.
Curation actions
- Leave IEMbase 160 unmapped for now.
- Future curation should create a UPB1/beta-ureidopropionase deficiency entry if this disease is in scope.
- Use the IEMbase N-carbamyl-beta-alanine, N-carbamyl-beta-aminoisobutyric acid, dihydrothymine, dihydrouracil, seizures, hypotonia, dystonia, and psychomotor-delay rows as primary leads.