Lipid Storage Myopathy Associated with Sertraline: A New Reality
DOI:
https://doi.org/10.24950/rspmi.2837Keywords:
Lipid Metabolism, Inborn Errors/therapy, Multiple Acyl Coenzyme A Dehydrogenase Deficiency/genetics, Muscle, Skeletal, Neuromuscular Diseases, Riboflavin/therapeutic use, Sertraline/Adverse effectsAbstract
Disorders of fatty acid β-oxidation are hereditary metabolic diseases that may present in adulthood, with predominantly muscular symptoms. Multiple acyl-CoA dehydrogenase deficiency (MADD), or glutaric acidemia type II (MIM#231680, ORPHA:26791), is a treatable inherited mitochondrial disease; however, acquired forms associated with sertraline use have been described, mimicking its phenotype and biochemical profile. We present the case of a 73-year-old man with progressive muscle weakness, rhabdomyolysis, elevated acylcarnitine compatible with MADD, imaging and histopathological evidence of lipid infiltration of muscle, but without detection of pathogenic variants in the ETFA, ETFB, or ETFDH genes. After discontinuation of sertraline and initiation of riboflavin therapy, normalization of the biochemical profile and partial functional recovery were observed. This is the first nationally reported case of sertraline-induced MADD-like disease, highlighting the importance of recognizing this potentially reversible entity. Drug withdrawal and early metabolic treatment are essential for prognosis and prevention of recurrences.
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