ArticleItalian journal of pediatrics2014
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.
Article in Italian journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.Journal of inherited metabolic disease · 2025Review
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
- Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.The Journal of international medical research · 2023Review
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- The paradox of autoimmunity and autoinflammation in inherited neutrophil disorders - in search of common patterns.Frontiers in immunology · 2023Review
- Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report.Italian journal of pediatrics · 2021Article
- An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.Frontiers in endocrinology · 2021Review
- Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.Orphanet journal of rare diseases · 2020Article
- Carbohydrate and Amino Acid Metabolism as Hallmarks for Innate Immune Cell Activation and Function.Cells · 2020Review
- Glycogen metabolism in humans.BBA clinical · 2016Review
- The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?Genetics and molecular biologyArticle
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. GSD1b patients are also at risk for inflammatory bowel disease. Occasional reports suggesting an increased risk of autoimmune disorders in GSD1b patients, have been published. These complications affect the clinical outcome of the patients. Here we describe the occurrence of autoimmune endocrine disorders including thyroiditis and growth hormone deficiency, in a patient affected by GSD1b. This case further supports the association between GSD1b and autoimmune diseases.
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