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Multiple acyl-COA dehydrogenase deficiency in elderly carriers. | LitMetric

AI Article Synopsis

  • - Multiple acyl-CoA dehydrogenase deficiency, also known as glutaric aciduria type II, is a genetic disorder affecting fatty acid metabolism, caused by mutations in the ETFA, ETFB, or ETFDH genes.
  • - Symptoms can range from severe cases in newborns to milder cases in older individuals, making age and clinical presentation quite variable.
  • - Two patients in their seventies were identified as carriers of the ETFDH mutation and showed improvement in symptoms and biochemical markers after treatment with riboflavin and L-carnitine, highlighting the need to consider this disorder in the diagnosis of myopathies even in older adults.

Article Abstract

Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer flavoprotein dehydrogenase (ETFDH) encoded by the ETFDH gene. The disease may present as a severe neonatal onset form and a mild late-onset form which is heterogeneous for the age at onset and clinical presentation. We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers of ETFDH gene mutation. Treatment with riboflavin and L-carnitine improved the clinical picture and the biochemical profile. This condition should be included in the differential diagnosis of myopathies even at an old age.

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Source
http://dx.doi.org/10.1007/s00415-020-09729-zDOI Listing

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