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. 1998 Feb;62(2):400–405. doi: 10.1086/301727

The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

B Annabi 1, H Hiraiwa 1, B C Mansfield 1, K J Lei 1, T Ubagai 1, M H Polymeropoulos 1, S W Moses 1, R Parvari 1, E Hershkovitz 1, H Mandel 1, M Fryman 1, J Y Chou 1
PMCID: PMC1376902  PMID: 9463334

Abstract

Glycogen-storage disease type 1 (GSD-1), also known as "von Gierke disease," is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this autosomal recessive disorder: 1a, 1b, 1c, and 1d. All share the same clinical manifestations, which are caused by abnormalities in the metabolism of glucose-6-phosphate (G6P). However, only GSD-1b patients suffer infectious complications, which are due to both the heritable neutropenia and the functional deficiencies of neutrophils and monocytes. Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the disorder in the 1b subgroup. We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region on chromosome 11q23. Eventual molecular characterization of this disease will provide new insights into the genetic bases of G6P metabolism and neutrophil-monocyte dysfunction.

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Selected References

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