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Case Reports
. 2020 May;267(5):1414-1419.
doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29.

Multiple acyl-COA dehydrogenase deficiency in elderly carriers

Francesco Macchione  1 , Leonardo Salviati  2   3 , Andrea Bordugo  4 , Monica Vincenzi  5 , Marta Camilot  5 , Francesca Teofoli  5 , Elia Pancheri  1 , Roberta Zordan  2   3 , Cinzia Bertolin  2   3 , Silvia Rossi  2   3 , Gaetano Vattemi  1 , Paola Tonin  6
Affiliations
Case Reports

Multiple acyl-COA dehydrogenase deficiency in elderly carriers

Francesco Macchione et al. J Neurol. 2020 May.

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.

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

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References

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