Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

Maria Sofia Cotelli, Valentina Vielmi, Marco Rimoldi, Manuela Rizzetto, Barbara Castellotti, Valeria Bertasi, Alice Todeschini, Valeria Gregorelli, Carla Baronchelli, Cinzia Gellera, Alessandro Padovani, Massimiliano Filosto

Research output: Contribution to journalArticlepeer-review


Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid metabolism due to ETFA, ETFB or ETFDH mutations. Riboflavin treatment ameliorates symptoms and metabolic profile in ETFDH-related MADD patients. We report on a 20-year-old boy with an 8-year history of progressive difficulty in walking, running and climbing stairs. Muscle biopsy showed a lipid myopathy and the acylcarnitine profile analysis was suggestive of MADD. Nevertheless, no evidence of molecular defects in the ETFA, ETFB and ETFDH exons or intron-exon boundaries was found. Treatment with riboflavin for 1 year resulted in a clear improvement in motor functions. Our report shows that some cases of MADD are not linked to ETFA, ETFB and ETFDH exon or intron-exon boundary changes. They could be due to quite rare promoter or deep intronic mutations or, most likely, to some unknown genetic defect. We therefore suggest to extend in these cases molecular studies to cDNA analysis and indicate the need of extensive pedigree studies to identify other possible disease-related loci. Most important, treatment of these cases with riboflavin can also be effective. Therefore, early diagnosis is essential to achieve the best treatment response.

Original languageEnglish
Pages (from-to)1383-1387
Number of pages5
JournalNeurological Sciences
Issue number6
Publication statusPublished - Mar 23 2012


  • Glutaric aciduria type II
  • Lipid myopathy
  • MADD
  • Riboflavin

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology
  • Medicine(all)


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