IEMbase 0217: GSS-related Glutathione synthetase deficiency, mild
Scope
| Field | Value |
|---|---|
| IEMbase ID | 217 |
| Nosology | 2.1.02.01 |
| Gene | GSS |
| External IDs | OMIM:266130 |
| Generated mapping | UNMAPPED; best candidate Hereditary_Orotic_Aciduria.yaml |
| Candidate DisMech targets | No valid local target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as GSS-related glutathione synthetase deficiency, mild, with alternate labels 5-oxoprolinuria and pyroglutamic aciduria. The record is autosomal recessive, marked as a mild form, and treatability is marked yes, though no treatment rows are listed in the cached record.
The biochemical rows include markedly decreased glutathione synthetase activity in fibroblasts and RBCs, decreased RBC glutathione, normal-to-increased urinary 5-oxoproline, low hemoglobin, and increased reticulocytes. The clinical rows are hemolytic anemia and jaundice.
DisMech phenotype coverage
No dedicated GSS or glutathione synthetase deficiency disorder was found in
kb/disorders. The generated candidate Hereditary_Orotic_Aciduria.yaml is
not valid: it covers UMPS-related pyrimidine synthesis failure and orotic acid
overexcretion, not GSS-related glutathione synthesis failure or
5-oxoprolinuria. 5-Oxoprolinase_Deficiency.yaml is a useful pathway/differential
neighbor because OPLAH and GSS can both produce 5-oxoprolinuria, but it is not a
valid target for this GSS disease.
Concordance and completeness
Judgement: true local gap.
IEMbase has a compact but coherent mild GSS deficiency profile: GSS enzyme deficiency, low RBC glutathione, urinary 5-oxoproline, hemolytic anemia, reticulocytosis, and jaundice. No local entry represents that gene-specific glutathione synthetase defect.
Curation actions
- Add GSS-related glutathione synthetase deficiency as a future local disease if glutathione-cycle disorders are curated.
- Reject
Hereditary_Orotic_Aciduria.yamlas a lexical/metabolite-neighbor false candidate. - Use
5-Oxoprolinase_Deficiency.yamlonly as differential context, not as a mapping target.