Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glycogenspeicherkrankheit 1

Die Glycogenspeicherkrankheit 1 (von Gierke) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen SLC37A4 oder G6PC ausgelöst wird. Die Manifestation ist sowohl in der Niere als auch in der Leber. In der Niere sehen wir eine Vergrößerung des Organs, eine Glomerulosklerose und ein renotubuläres Fanconi-Syndrom.

Gliederung

Metabolische Störungen der proximalen Tubulusfunktion
Cystinose
Fanconi-Bickel-Syndrom
Fanconi-Syndrom
Fruktoseintoleranz
Galactosämie
Glycogenspeicherkrankheit 1
Glycogenspeicherkrankheit 1A
G6PC
Glycogenspeicherkrankheit 1B
SLC37A4
Glycogenspeicherkrankheit 1C
SLC37A4
Hepatorenale Tyrosinämie
Lowe-Syndrom
MELAS-Syndrom
Morbus Dent
Morbus Wilson

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.

Kure S et. al. (1998) Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

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4.

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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5.

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

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6.

Kure S et. al. (2000) Glycogen storage disease type Ib without neutropenia.

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7.

Lei KJ et. al. (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

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8.

Chevalier-Porst F et. al. (1996) Mutation analysis in 24 French patients with glycogen storage disease type 1a.

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9.

Parvari R et. al. (1997) Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

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10.

Stroppiano M et. al. (1999) Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

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11.

Akanuma J et. al. (2000) Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

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12.

Ki CS et. al. (2004) Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

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13.

Ekstein J et. al. (2004) Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

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14.

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

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15.

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

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16.

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

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17.

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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18.

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

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19.

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

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20.

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

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21.

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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22.

Sann L et. al. (1980) In vivo evidence for defective activity of glucose-6-phosphatase in type IB glycogenosis.

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23.

None (1980) Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes?

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24.

Kuzuya T et. al. (1983) An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies.

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25.

Buchino JJ et. al. (1983) Glycogen storage disease type IB.

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26.

Schaub J et. al. (1983) Glycogen storage disease type Ib.

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27.

Seger R et. al. (1984) Short communication. Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shunt.

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28.

Heyne K et. al. (1984) Glycogen storage disease type Ib: familial bleeding tendency.

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29.

Corbeel L et. al. () Haematological findings in type Ib glycogen storage disease before and after portacaval shunt.

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30.

Schaub J et. al. (1981) Glycogenosis type Ib. Further evidence for a membrane disease.

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31.

Talente GM et. al. (1994) Glycogen storage disease in adults.

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32.

Lee PJ et. al. (1996) Uncooked cornstarch--efficacy in type I glycogenosis.

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33.

Yang Chou J et. al. (1999) Molecular Genetics of Type 1 Glycogen Storage Diseases.

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34.

Kuijpers TW et. al. (2003) Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).

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35.

Ryan IP et. al. (1994) Three consecutive pregnancies in a patient with glycogen storage disease type IA (von Gierke's disease).

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36.

None (1993) The long-term outcome of patients with glycogen storage disease type Ia.

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37.

None (1993) Renal complications in glycogen storage disease type I.

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38.

Selby R et. al. (1993) Liver transplantation for type I and type IV glycogen storage disease.

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39.

None (1993) Glycogen storage disease I and hepatocellular tumours.

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40.

Restaino I et. al. (1993) Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease.

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41.

Obara K et. al. (1993) Renal histology in two adult patients with type I glycogen storage disease.

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42.

Lei KJ et. al. (1996) Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.

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43.

Nuoffer JM et. al. (1997) Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth.

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44.

Marcolongo P et. al. (1998) Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage disease.

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45.

Faivre L et. al. (1999) Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.

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46.

Seydewitz HH et. al. (2000) Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.

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47.

Trioche P et. al. (2000) Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia.

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48.

Weinstein DA et. al. (2001) Decreased urinary citrate excretion in type 1a glycogen storage disease.

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49.

Wierzbicki AS et. al. (2001) Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).

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50.

Sun MS et. al. (2002) Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.

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51.

CORI GT et. al. (1952) Glucose-6-phosphatase of the liver in glycogen storage disease.

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52.

Lam TK et. al. (2005) Regulation of blood glucose by hypothalamic pyruvate metabolism.

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53.

None () //

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54.

Kishnani PS et. al. (2009) Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

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55.

Wang DQ et. al. (2012) Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.

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