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Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Disease definition

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

ORPHA:79259

Classification level: Subtype of disorder
  • Synonym(s):
    • G6P deficiency type Ib
    • G6P translocase deficiency
    • G6PT deficiency
    • GSD due to G6P deficiency type 1b
    • GSD due to G6P deficiency type Ib
    • GSD due to G6PT deficiency
    • GSD type 1 non a
    • GSD type 1b
    • GSD type Ib
    • GSDIb
    • Glycogen storage disease due to G6P deficiency type Ib
    • Glycogen storage disease type 1b
    • Glycogen storage disease type Ib
    • Glycogenosis due to glucose-6-phosphatase deficiency type 1b
    • Glycogenosis due to glucose-6-phosphatase transport defect type Ib
    • Glycogenosis type 1b
    • Glycogenosis type Ib
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.0
  • OMIM: 232220  232240
  • UMLS: C0268146
  • MeSH: -
  • GARD: 2515
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown. Annual incidence at birth of glycogenosis due to G6P deficiency is around 1/100,000. Type b is the less frequent type, affecting about 20% of patients.

Clinical description

Clinical presentation is similar to that of glycogenosis due to G6P deficiency type a (see this term). In addition, in type b, neutropenia, and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphthous gingivostomatitis, and inflammatory bowel disease.

Etiology

The disease is due to a dysfunction in the G6P system, a key step in glycemia regulation. Type b is due to mutations in the SLC37A4 gene (11q23), which cause a deficit of the ubiquitously expressed G6P transporter, or G6P translocase (G6PT). Many mutations have been identified, illustrating the allelic heterogeneity of the condition.

Genetic counseling

Transmission is autosomal recessive.

Management and treatment

Management is similar in both types of glycogenosis due to G6P deficiency (see this term). However, in type b, periodic antibiotic therapy may be needed, and, under careful monitoring, granulocyte colony-stimulating factor (G-CSF or GCSF) enables correction of neutropenia with reduction of infections and inflammatory bowel disease.

Expert reviewer(s):  Pr Philippe LABRUNE - Last update: November 2010

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.