IEMbase 0485: SLC37A4-related glucose-6-phosphate transporter deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 485 |
| Nosology | 3.4.04.01 |
| Gene | SLC37A4 |
| External IDs | OMIM:232220; ORPHA:79259 |
| Generated mapping | CANDIDATE; medium candidate Glycogen_Storage_Disease_Type_I.yaml |
| Candidate DisMech targets | Glycogen_Storage_Disease_Type_I.yaml#GSD Ib (glucose-6-phosphate transporter deficiency) |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive SLC37A4-related glucose-6-phosphate transporter deficiency as GSD Ib / GSD I non-a. Treatments include fasting avoidance, uncooked cornstarch, granulocyte colony-stimulating factor, liver transplantation, empagliflozin, and hematopoietic stem cell transplant. Biochemical rows overlap GSD Ia for glucose/lactate/lipid/urate/liver glycogen abnormalities and add decreased neutrophil count plus increased plasma and urine 1,5-anhydroglucitol-6-phosphate. Clinical rows include anemia, leukocyte function impairment, recurrent infections, bleeding tendency, diarrhea, liver adenoma/carcinoma, renal complications, osteopenia, pancreatitis, pulmonary hypertension, short stature, tachypnea, delayed tooth eruption, and taurodontism.
DisMech phenotype coverage
Glycogen_Storage_Disease_Type_I.yaml#GSD Ib (glucose-6-phosphate transporter
deficiency) is the exact local target. The entry models SLC37A4/G6PT deficiency
as the GSD Ib subtype, the shared GSD I metabolic branch, and the GSD Ib-specific
neutropenia / neutrophil dysfunction branch with recurrent infections, oral
ulcers, mucosal lesions, and inflammatory bowel disease context. It includes
uncooked cornstarch, granulocyte colony-stimulating factor, empagliflozin for
GSD Ib neutropenia, liver transplantation, kidney transplantation, and other
metabolic complication treatments.
Concordance and completeness
Judgement: accept generated candidate as correct subtype-level coverage.
The generated mapper treated this only as a medium disease-level candidate, but the local GSD I file has an explicit GSD Ib subtype and SLC37A4 mechanisms. The resources agree on the shared fasting hypoglycemia/metabolic GSD I phenotype, the distinguishing neutropenia/neutrophil-dysfunction arm, infection risk, cornstarch, G-CSF, empagliflozin, and liver-transplant context. IEMbase adds important enrichment prompts, especially 1,5-anhydroglucitol-6-phosphate, biotinidase, hematopoietic stem cell transplant, delayed tooth eruption, taurodontism, and some renal/hepatic complication granularity.
Curation actions
- Resolve this row to
Glycogen_Storage_Disease_Type_I.yaml#GSD Ib (glucose-6-phosphate transporter deficiency). - Treat broad disease-level
Glycogen_Storage_Disease_Type_I.yamlas acceptable only if the subtype anchor is preserved. - Verify 1,5-anhydroglucitol-6-phosphate, hematopoietic stem cell transplant, biotinidase, delayed tooth eruption, and taurodontism before structural import.