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ABSTRACT: Background
Multiple acyl-CoA Dehydrogenation Deficiency (MADD) is a hereditary metabolic disorder affecting the metabolism of fatty acids, amino acids, and choline, typically presenting with fat accumulation and mitochondrial abnormalities in muscle pathology. Growth differentiation factor 15 (GDF15) is a stress-responsive cytokine implicated in energy metabolism. Therefore, this study aimed to assess the level of GDF15 in patients with late-onset MADD and to evaluate its potential as a reliable biomarker for diagnosing symptoms and determining the severity of late-onset MADD.Methods
In this study, consecutive patients with MADD mitochondrial diseases were recruited from the Neuromuscular Center of Qilu Hospital, Shandong University, between April 2015 and October 2021. We
SUBMITTER: Yuan S
PROVIDER: S-EPMC11969926 | biostudies-literature | 2025 Apr
REPOSITORIES: biostudies-literature