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

Rev Endocr Metab Disord. 2024 Apr 1. doi: 10.1007/s11154-024-09880-2. Online ahead of print.ABSTRACTHepatic 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.PMID:38556561 | DOI:10.1007/s11154-024-09880-2

Source: ENDOCR REV - March 31, 2024 Category: Endocrinology 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 Source Type: research