Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glycogen storage disease 1C

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.

Systematic

Glycogen storage disease 1
Glycogen storage disease 1A
Glycogen storage disease 1B
Glycogen storage disease 1C
SLC37A4

References:

1.

Gerin I et al. (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

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2.

Fenske CD et al. (1998) Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.

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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.

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4.

Janecke AR et al. (1999) Molecular diagnosis of type 1c glycogen storage disease.

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5.

Burchell A et al. (1991) Diagnosis of type 1B and 1C glycogen storage disease.

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6.

None (1990) Molecular pathology of glucose-6-phosphatase.

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7.

Burchell A et al. (1987) Diagnosis of type 1a and type 1c glycogen storage diseases in adults.

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8.

Arion WJ et al. (1980) Evidence for the participation of independent translocation for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system. Interactions of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate.

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9.

Nordlie RC et al. (1983) Type Ic, a novel glycogenosis. Underlying mechanism.

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10.

Annabi B et al. (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

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11.

Visser G et al. (1998) Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c.

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12.

Lin B et al. (1999) Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene.

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13.

OMIM.ORG article

Omim 232240 [^]
Update: April 29, 2019