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Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
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:79259Classification level: Subtype of disorder
- 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
- 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: -
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 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.
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.
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.
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