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Definition
Glycogen storage disease type 1b (GSD1b) (OMIM #232220) is an autosomal recessive inborn error of metabolism caused by mutations in the glucose-6-phosphate transporter 1 gene (SLC37A4) crucial for glycogen/glucose homeostasis and located in the long arm of chromosome 11q23.3 (Melis et al. 2017; Annabi et al. 1998).
Introduction
Glycogen storage disease type 1b (GSD1b), first described as a separate entity in 1978, is an inborn disorder of metabolism. GSD1b is a subtype of GSD1 with an incidence of 1/100,000, and 20% of these are estimated as having GSD1b. The inherited defects in the microsomal glucose-6-phosphate transporter (G6PT) lead to clinical features characteristic of GSD1b, such as hepatomegaly, growth retardation, osteopenia, kidney enlargement, hypoglycemia, hyperlactacidemia, hyperlipidemia, and hyperuricemia. The majority of patients have intermittent severe neutropenia and neutrophil dysfunction and as a...
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References
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Mansour, E., Sousa, A.F.B. (2020). Glycogen Storage Disease Type 1b. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_136-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_136-1
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