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Reviews in Endocrine and Metabolic Disorders

Open Access 01-04-2024 | Hypoglycemia

Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care

Authors: Alessandro Rossi, Chiara Simeoli, Rosario Pivonello, Mariacarolina Salerno, Carmen Rosano, Barbara Brunetti, Pietro Strisciuglio, Annamaria Colao, Giancarlo Parenti, Daniela Melis, Terry G.J. Derks

Published in: Reviews in Endocrine and Metabolic Disorders

Abstract

Hepatic glycogen storage diseases constitute a group of disorders due to defects in the enzymes and transporters involved in glycogen breakdown and synthesis in the liver. Although hypoglycemia and hepatomegaly are the primary manifestations of (most of) hepatic GSDs, involvement of the endocrine system has been reported at multiple levels in individuals with hepatic GSDs. While some endocrine abnormalities (e.g., hypothalamic‑pituitary axis dysfunction in GSD I) can be direct consequence of the genetic defect itself, others (e.g., osteopenia in GSD Ib, insulin-resistance in GSD I and GSD III) may be triggered by the (dietary/medical) treatment. Being aware of the endocrine abnormalities occurring in hepatic GSDs is essential (1) to provide optimized medical care to this group of individuals and (2) to drive research aiming at understanding the disease pathophysiology. In this review, a thorough description of the endocrine manifestations in individuals with hepatic GSDs is presented, including pathophysiological and clinical implications.

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Title: Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care
Authors: Alessandro Rossi
Chiara Simeoli
Rosario Pivonello
Mariacarolina Salerno
Carmen Rosano
Barbara Brunetti
Pietro Strisciuglio
Annamaria Colao
Giancarlo Parenti
Daniela Melis
Terry G.J. Derks
Publication date: 01-04-2024
Publisher: Springer US
Keywords: Hypoglycemia
Insulins
Insulins
Published in: Reviews in Endocrine and Metabolic Disorders
Print ISSN: 1389-9155
Electronic ISSN: 1573-2606
DOI: https://doi.org/10.1007/s11154-024-09880-2

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