Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy

Neuromuscul Disord. 2017 Jun;27(6):581-584. doi: 10.1016/j.nmd.2017.03.003. Epub 2017 Mar 9.


Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis, lethargy, vomiting, muscle pain and weakness. Riboflavin therapy has been shown to ameliorate diseases symptoms in some of these patients. Recently, mutations in FAD synthase have been described to cause multiple acyl-CoA dehydrogenation deficiency. We describe here the effect of riboflavin supplementation therapy in a previously reported adult patient with multiple acyl-CoA dehydrogenation deficiency having compound heterozygous gene variations in FLAD1 (MIM: 610595) encoding FAD synthase. We present thorough clinical history including laboratory investigations, muscle MRI, muscle biopsy and spiroergometric analyses comprising of a follow-up of 20 years. Our data suggest that patients with adult-onset multiple acyl-CoA dehydrogenation deficiency with FLAD1 gene mutations also benefit from long-term riboflavin therapy.

Keywords: Genetics; Metabolic disease; Muscle disease; Neuromuscular disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Frameshift Mutation*
  • Heterozygote
  • Humans
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / diet therapy*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / genetics*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / pathology
  • Muscle, Skeletal
  • Mutation, Missense*
  • Riboflavin / therapeutic use*
  • Treatment Outcome


  • Riboflavin