Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glycogen storage disease 1

Glycogen storage disease 1 is an autosomal recessive disorder caused by mutations of the SLC37A4 or G6PC gene. It manifests in liver and kidney. The renal disease includes most commonly glomerulosclerosis. A renotubular Fanconi syndrome is also observed in some cases.

Systematic

Metabolic disturbances of proximal tubular function
Cystinosis
Dent disease
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Fructose intolerance
Galactosemia
Glycogen storage disease 1
Glycogen storage disease 1A
G6PC
Glycogen storage disease 1B
SLC37A4
Glycogen storage disease 1C
SLC37A4
Hepatorenal tyrosinemia
Lowe disease
MELAS syndrome
Wilson disease

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.

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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Update: Sept. 26, 2018