Glycogen storage disease 1C is similar to von Gierke disease except for the underlying gene defect. As with glycogen storage disease 1B the transporter is deficient. Inheritance is autosomal recessive.
Glycogen storage disease 1 | ||||
Glycogen storage disease 1A | ||||
Glycogen storage disease 1B | ||||
Glycogen storage disease 1C | ||||
SLC37A4 | ||||
1. |
Gerin I et al. (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. |
2. |
Fenske CD et al. (1998) Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. |
3. |
Veiga-da-Cunha M et al. (1998) A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. |
4. |
Janecke AR et al. (1999) Molecular diagnosis of type 1c glycogen storage disease. |
5. |
Burchell A et al. (1991) Diagnosis of type 1B and 1C glycogen storage disease. |
6. |
None (1990) Molecular pathology of glucose-6-phosphatase. |
7. |
Burchell A et al. (1987) Diagnosis of type 1a and type 1c glycogen storage diseases in adults. |
9. |
Nordlie RC et al. (1983) Type Ic, a novel glycogenosis. Underlying mechanism. |
10. |
Annabi B et al. (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23. |
11. |
Visser G et al. (1998) Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c. |
12. |
Lin B et al. (1999) Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene. |
13. |
OMIM.ORG article Omim 232240 |