IEMbase 0215: OPLAH-related 5-Oxoprolinase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 215 |
| Nosology | 2.1.04.01 |
| Gene | OPLAH |
| External IDs | OMIM:260005; ORPHA:33572 |
| Generated mapping | MAPPED; 5-Oxoprolinase_Deficiency.yaml |
| Candidate DisMech targets | 5-Oxoprolinase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as OPLAH-related 5-oxoprolinase deficiency, with alternate labels oxoprolinuria and OPLAHD. The record is autosomal recessive and treatability is marked unknown.
The biochemical rows include reduced 5-oxoprolinase activity in fibroblasts and white blood cells and increased urinary 5-oxoproline. Characteristic clinical content includes acidosis, with additional rows for colitis, diarrhea, microcephaly, psychomotor delay, renal colic, and urolithiasis. No treatment rows are listed in the cached record.
DisMech phenotype coverage
5-Oxoprolinase_Deficiency.yaml is the correct target. The local entry covers
biallelic OPLAH disease, reduced ATP-dependent 5-oxoprolinase activity,
gamma-glutamyl-cycle block, persistent urinary 5-oxoproline/pyroglutamic acid,
heterogeneous clinical significance, metabolic acidosis, hypoglycemia, global
developmental delay, feeding difficulty, microcephaly, enterocolitis, seizures,
hypomyelination, ventriculomegaly, corpus-callosum hypoplasia, molecular
testing, and supportive management.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on OPLAH identity, recessive inheritance, 5-oxoprolinase deficiency, urinary 5-oxoproline, acidosis, neurodevelopmental features, microcephaly, and gastrointestinal involvement. DisMech is richer for uncertainty around clinical penetrance, neuroimaging findings, hypoglycemia, and diagnostic/molecular testing. IEMbase adds renal colic and urolithiasis as specific review leads.
Curation actions
- Keep this record mapped to
5-Oxoprolinase_Deficiency.yaml. - Consider adding explicit renal colic/urolithiasis rows if supported by the OPLAH evidence base.
- No mapping correction is needed.