Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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.

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

Gerin I et al. (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

external link
30.

OMIM.ORG article

Omim 232220 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits