Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin

Int J Neurosci. 2020 Dec;130(12):1192-1198. doi: 10.1080/00207454.2020.1730831. Epub 2020 Mar 9.


Background: Recessive mutations in ETFDH gene have been associated with Multiple Acyl-CoA dehydrogenase deficiency (MADD). The late-onset MADD is often muscle involved, presenting with lipid storage myopathy (LSM). The symptoms of LSM were heterogeneous and definite diagnosis of this disease depends on the pathology and gene test.Methods: Neurological examination, muscle biopsy, and MRI examinations were performed in a patient with a novel missense ETFDH mutation.Results: We describe a patient with lipid storage myopathy complicated with skin damage. In addition, the next generation revealed a novel missense mutation (c.970G > T, p.Val324Leu) in exon 8, which was predicted to be a disease-causing mutation by Mutation-taster, and destroy the function of the protein by Sift.Conclusion: These findings expand the known mutational spectrum of ETFDH and phenotype of MADD.

Keywords: Lipid storage myopathy; electron transfer flavoprotein dehydrogenase; multiple acyl-CoA dehydrogenase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Electron-Transferring Flavoproteins / genetics*
  • Humans
  • Lipid Metabolism, Inborn Errors* / diagnosis
  • Lipid Metabolism, Inborn Errors* / drug therapy
  • Lipid Metabolism, Inborn Errors* / genetics
  • Lipid Metabolism, Inborn Errors* / pathology
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency* / diagnosis
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency* / drug therapy
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency* / genetics
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency* / pathology
  • Muscular Dystrophies* / diagnosis
  • Muscular Dystrophies* / drug therapy
  • Muscular Dystrophies* / genetics
  • Muscular Dystrophies* / pathology
  • Mutation, Missense
  • Riboflavin / administration & dosage
  • Riboflavin / pharmacology*
  • Skin / pathology*
  • Vitamin B Complex / administration & dosage
  • Vitamin B Complex / pharmacology*


  • Electron-Transferring Flavoproteins
  • Vitamin B Complex
  • Riboflavin

Supplementary concepts

  • Myopathy with Abnormal Lipid Metabolism