IEMbase 0216: GCLC-related Gamma-glutamylcysteine synthetase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 216 |
| Nosology | 2.1.01.01 |
| Gene | GCLC |
| External IDs | OMIM:230450 |
| Generated mapping | UNMAPPED; best candidate Carbamoyl_Phosphate_Synthetase_I_Deficiency.yaml |
| Candidate DisMech targets | No valid local target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as GCLC-related gamma-glutamylcysteine synthetase deficiency, with alternate labels glutamate-cysteine ligase deficiency, hemolytic anemia due to GGCS deficiency, and GGCS. The record is autosomal recessive and treatability is marked unknown.
The biochemical rows include markedly decreased gamma-glutamyl-cysteine synthetase activity in fibroblasts and RBCs, markedly decreased RBC glutathione, low hemoglobin, increased reticulocytes, and normal-to-increased plasma amino acids. Characteristic clinical rows include hemolytic anemia and jaundice, with additional rows for ataxia, psychotic behavior, myopathy, and neurocognitive/behavioral issues. No treatment rows are listed in the cached record.
DisMech phenotype coverage
No dedicated GCLC or gamma-glutamylcysteine synthetase deficiency disorder was
found in kb/disorders. The generated candidate
Carbamoyl_Phosphate_Synthetase_I_Deficiency.yaml is not valid: it covers CPS1
proximal urea-cycle disease with hyperammonemia, low citrulline, and normal or
low orotic acid, not GCLC/glutathione-biosynthesis disease. Nearby local
gamma-glutamyl-cycle content in 5-Oxoprolinase_Deficiency.yaml is
OPLAH-specific and does not cover GCLC deficiency.
Concordance and completeness
Judgement: true local gap.
IEMbase provides a coherent GCLC deficiency profile anchored on enzyme deficiency, low RBC glutathione, hemolytic anemia, reticulocytosis, jaundice, and optional neurologic/psychiatric features. The local CPS1 candidate shares only a synthetase-word lexical overlap and is mechanistically unrelated.
Curation actions
- Add GCLC-related gamma-glutamylcysteine synthetase deficiency as a future local disease if glutathione-cycle disorders are curated.
- Reject
Carbamoyl_Phosphate_Synthetase_I_Deficiency.yamlas a false candidate. - Use IEMbase as a lead for RBC glutathione, enzyme-activity, hemolytic anemia, reticulocyte, and jaundice rows.