Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glycogen storage disease 1B

Glycogen storage disease 1B is similar to von Gierke disease except for the underlying gene defect. As with glycogen storage disease 1C the transporter is deficient. Inheritance is autosomal recessive.

Systematic

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

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.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

Narisawa K et al. (1978) A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system.

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19.

Arion WJ et al. (1975) On the involvement of a glucose 6-phosphate transport system in the function of microsomal glucose 6-phosphatase.

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20.

Roe TF et al. (1992) Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors.

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21.

Schroten H et al. (1991) Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib.

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22.

Kikuchi M et al. (1990) Secondary amyloidosis in glycogen storage disease type Ib.

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23.

Heyne K et al. (1989) Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity.

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24.

Narisawa K et al. (1986) Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b.

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25.

Bashan N et al. (1988) Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib.

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26.

Roe TF et al. (1986) Inflammatory bowel disease in glycogen storage disease type Ib.

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27.

Ueno N et al. (1986) Impaired monocyte function in glycogen storage disease type Ib.

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28.

Ambruso DR et al. (1985) Infectious and bleeding complications in patients with glycogenosis Ib.

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29.

Senior B et al. (1968) Functional differentiation of glycogenoses of the liver with respect to the use of glycerol.

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30.

OMIM.ORG article

Omim 232220 [^]
Update: April 29, 2019