Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glycogenspeicherkrankheit 1C

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.

Gliederung

Glycogenspeicherkrankheit 1
Glycogenspeicherkrankheit 1A
Glycogenspeicherkrankheit 1B
Glycogenspeicherkrankheit 1C
SLC37A4

Referenzen:

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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