title: Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.
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.
authors.affiliation: Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via S, Pansini 5, 80131 Naples, Italy. daniela.melis@unina.it.
authors.forename: Daniela
authors.initials: D
authors.lastname: Melis
authors.forename: Roberto
authors.initials: R
authors.lastname: Della Casa
authors.forename: Francesca
authors.initials: F
authors.lastname: Balivo
authors.forename: Giorgia
authors.initials: G
authors.lastname: Minopoli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Rossi
authors.forename: Mariacarolina
authors.initials: M
authors.lastname: Salerno
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
mesh_terms: D015551:Autoimmunity; D018450:Disease Progression; D004703:Endocrine System / Q000276:immunology*; D005500:Follow-Up Studies; D005953:Glycogen Storage Disease Type I / Q000276:immunology / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D013997:Time Factors