Publicação
Lipid Storage Myopathy Associated with Sertraline: A New Reality
| Resumo: | 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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| Autores principais: | Ferreira, Inês |
| Outros Autores: | Rodrigues, Sofia; Rodrigues, Filipa; Pereira, Diogo; Dinis, Daniela; Quelhas, Dulce; Sousa Martins, Rute; Rocha, Sara; Guimas, Arlindo |
| Assunto: | Deficiência Múltipla de Acil Coenzima A Desidrogenase/genética Doenças Neuromusculares Erros Inatos do Metabolismo Lipídico/tratamento Músculo Esquelético Riboflavina/uso terapêutico Sertralina/Efeitos Adversos Lipid Metabolism, Inborn Errors/therapy Multiple Acyl Coenzyme A Dehydrogenase Deficiency/genetics Muscle, Skeletal Neuromuscular Diseases Riboflavin/therapeutic use Sertraline/Adverse effects |
| Ano: | 2026 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | unknown |
| Instituição associada: | Sociedade Portuguesa de Medicina Interna |
| Idioma: | inglês |
| Origem: | Revista Portuguesa de Medicina Interna |
| Resumo: | 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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