Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Die Glycogenspeicherkrankheit 1C zeigt ähnliche Symptome wie die von Gierke-Erkrankung. Im Unterschied zu dieser ist allerdings wie bei der Glycogenspeicherkrankheit 1B der Transporter, das Gen SLC37A4, betroffen. Der Erbgang ist autosomal rezessiv.
Glycogenspeicherkrankheit 1
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Glycogenspeicherkrankheit 1A
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Glycogenspeicherkrankheit 1B
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Glycogenspeicherkrankheit 1C
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SLC37A4
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| 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
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