Glycogen storage disease Ib

In glycogen storage disease type I, the enzyme glucose-6-phosphatase is defective in the liver, kidney, and small intestine, where it normally functions. Type Ia represent the true enzymatic defect, and type Ib represent the transport defect. GSD Ia and Ib are autosomal recessive genetic traits. Although extremely rare there are patients with subtypes Ic and Id, probably due to unusual mutations in the translocase gene (11q23).

Alternative names

GSD1B

Glucose-6-phosphatase transport defect

Classification

  • Defects of phagocyte function

Inheritance

Autosomal recessive

OMIM

+232200 Glycogen storage disease I

#232220 Glycogen storage disease Ib

#232240 Glycogen storage disease Ic

*602671 Glucose-6-phosphate transporter 1; G6PT1

Cross references

Phenotypically related immunodeficiencies

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Incidence

1:100000 births.