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Multiple acyl-COA dehydrogenase deficiency in elderly carriers

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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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Funding

LS was supported by a Grant from Fondazione IRP Città della Speranza.

Author information

Correspondence to Paola Tonin.

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Conflicts of interest

The authors declare that they have no conflict of interest.

Ethical standards

The study was approved by the local Ethics Committee and written informed consent was obtained from the patients.

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Macchione, F., Salviati, L., Bordugo, A. et al. Multiple acyl-COA dehydrogenase deficiency in elderly carriers. J Neurol (2020). https://doi.org/10.1007/s00415-020-09729-z

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Keywords

  • Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD)
  • Myopathy
  • ETFDH gene mutations
  • Fatty acid oxidation
  • Riboflavin treatment