Summary
Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of develo** severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn-like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25-year-old patient affected by GSD Ib who developed ‘seronegative’ myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti-acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.
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Abbreviations
- G6P:
-
glucose 6-phosphate
- G6Pase α:
-
glucose-6 phosphatase α
- G6PT:
-
glucose 6-phosphate transporter
- G-CSF:
-
granulocyte colony-stimulating factor
- GSD I:
-
glycogen storage disease type I
- MG:
-
myasthenia gravis
- NMJ:
-
neuromuscular junction
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Communicating editor: Matthias Baumgartner
Competing interests: None declared
References to electronic databases: glycogen storage disease type Ib: OMIM 232220.
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Melis, D., Balivo, F., Della Casa, R. et al. Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?. J Inherit Metab Dis 31 (Suppl 2), 227–231 (2008). https://doi.org/10.1007/s10545-008-0810-4
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DOI: https://doi.org/10.1007/s10545-008-0810-4