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Glycogen storage disease type 1 due to SLC37A4 mutation
rareAny glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.
- Identifiers
- MONDO:0023258
- Causal genes
- SLC37A4
- Part of
- Glycogen storage disease I
- Also known as
- glucose-6-phosphate translocase deficiency · glycogen storage disease I caused by mutation in SLC37A4 · SLC37A4 glycogen storage disease I
Subtypes
| Disease | Subtypes |
|---|---|
| Glycogen storage disease Ib |
Projects
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