IEMbase 0572: UCP2-related hyperinsulinism
Scope
| Field | Value |
|---|---|
| IEMbase ID | 572 |
| Nosology | 24.1.08.02 |
| Gene | UCP2 |
| External IDs | OMIM:601693; ORPHA:276556 |
| Generated mapping | UNMAPPED; best candidate Pyruvate_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | Congenital_Isolated_Hyperinsulinism.yaml as broad context only |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents UCP2-related uncoupling protein 2 deficiency, abbreviated UCP2-HI. The record is autosomal dominant, idiopathic subtype, of unknown treatability, and has no treatment rows.
Biochemical rows include decreased free fatty acids during hypoglycemia, decreased ketones during hypoglycemia, low plasma glucose, and normal-to-high insulin during hypoglycemia. Characteristic rows include hyperinsulinism and hypoketotic hypoglycemia.
DisMech phenotype coverage
Congenital_Isolated_Hyperinsulinism.yaml includes broad CHI mechanisms and an
evidence snippet naming UCP2 among known CHI genes, but it does not appear to
model a UCP2-HI subtype or UCP2-specific mitochondrial uncoupling/beta-cell
metabolic mechanism. The generated Pyruvate_Dehydrogenase_Deficiency.yaml
candidate is a false positive and does not match the UCP2-HI disease scope.
Concordance and completeness
Judgement: broad CHI context only; exact UCP2-related hyperinsulinism coverage remains a local gap.
IEMbase overlaps with the local CHI entry on hyperinsulinism, hypoketotic hypoglycemia, low plasma glucose, suppressed free fatty acids, and suppressed ketones. The gene-specific UCP2 mechanism and subtype are missing.
Curation actions
- Reject
Pyruvate_Dehydrogenase_Deficiency.yamlas an exact mapping. - Add UCP2-HI to the congenital hyperinsulinism backlog.
- Preserve IEMbase free-fatty-acid, ketone, glucose, insulin, and UCP2-HI alias prompts for future source review.