ArticleBMJ case reports2021
Type la glycogen storage disease complicated with diabetes mellitus: the role of flash continuous glucose monitoring.
Article in BMJ case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 2 of them syntheses that pooled it.
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Who cites it
3 citing papers in PubMed, 2 syntheses or guidelines pooled it, 4 citations in OpenAlex.
- Continuous Glucose Monitoring in Glycogen Storage Diseases: A Systematic Review of Clinical Utility, Accuracy and Patient Outcomes.Endocrinology, diabetes & metabolism · 2026Pooled it
- Continuous glucose monitoring in patients with inherited metabolic disorders at risk for Hypoglycemia and Nutritional implications.Reviews in endocrine & metabolic disorders · 2024Pooled it
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 22-year-old woman with type Ia glycogen storage disease was referred to the endocrinology department with new-onset diabetes mellitus-glycated haemoglobin (HbA1c) of 8.2%. She had suffered from repeated bouts of hypoglycaemia since the first days of her life. The diagnosis was made at 5 months old, after clinical investigations revealed mixed dyslipidaemia, lactic acidosis and hepatomegaly. Compound heterozygosity was documented at the age of 4. The basis of her initial treatment was starch and reinforced soy milk, ingested multiple times a day and night. The patient suffered from obesity since childhood. This case shows a rare association between glycogen storage disease type Ia and diabetes mellitus. A multidisciplinary approach was implemented. Through diet and use of flash continuous glucose monitoring, we were able to improve patient's adherence and metabolic profile. Hypoglycaemia and hyperglycaemia risk significantly decreased; 86% time in range (70-180 mg/dL), 6% hypoglycaemia and 6.3% HbA1c in recent evaluations.
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