Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Glycogen Storage Disease Type 1b

  • Eli MansourEmail author
  • Ana Flavia Bernardes Sousa
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_136-1

Synonyms

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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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Division of Clinical Immunology and Allergy, Department of Clinical MedicineState University of Campinas (UNICAMP)CampinasBrazil

Section editors and affiliations

  • Antonio Condino-Neto
    • 1
  1. 1.Department of ImmunologyInstitute of Biomedical Sciences – University of São PauloSão PauloBrazil