Journal of Clinical Medicine
Effectiveness of the Dual GLP-1R/GCGR Agonist Mazdutide in GSD IXc: A Case Report
By 陈英英, Xueyu Zhong, Xin Guo and 3 others.
Abstract
Background
Glycogen storage disease type IXc (GSD IXc), caused by pathogenic PHKG2 variants leading to phosphorylase kinase deficiency, is associated with the most unfavorable prognosis among GSD IX subtypes. Patients are at markedly increased risk of progressive hepatic fibrosis and cirrhosis, for which no established disease-modifying therapies exist. Mazdutide, a dual glucagon-like peptide-1 receptor (GLP-1R) and glucagon receptor (GCGR) agonist approved for type 2 diabetes and obesity, has demonstrated beneficial effects on hepatic metabolism, steatosis, and fibrosis in preclinical studies.
Objectives
To explore the efficacy of mazdutide for weight management, hepatic function, and glycemic control in an overweight patient with GSD IXc.