A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure

Rumiko Izumi, Naoki Suzuki, Mari Nagata, Takafumi Hasegawa, Yu Abe, Yuka Saito, Hiroshi Mochizuki, Maki Tateyama, Masashi Aoki

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)

Abstract

We report an adult case of late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by episodic recurrent rhabdomyolysis and acute renal failure after the age of 46. Muscle biopsy revealed lipid storage myopathy and the finding of serum acylcarnitine and urine organic acid analyses were consistent with MADD. A compound heterozygous mutation was identified in the electrontransferring- flavoprotein dehydrogenase (ETFDH) gene, including a novel missense mutation, which confirmed the diagnosis of MADD. After administration of riboflavin and L-carnitine, the muscle weakness and fatigability gradually improved. Acylcarnitine and urine organic acid were also normalized after supplementation. Thus, MADD should be included in one of the differential diagnoses for adult recurrent rhabdomyolysis. Gene analysis is useful to confirm the diagnosis, and early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.

Original languageEnglish
Pages (from-to)2663-2668
Number of pages6
JournalInternal Medicine
Volume50
Issue number21
DOIs
Publication statusPublished - 2011

Keywords

  • Acute renal failure
  • Electron-transferring-flavoprotein dehydrogenase (ETFDH)
  • Lipid storage myopathy
  • Multiple acyl-CoA dehydrogenase deficiency (MADD)
  • Recurrent rhabdomyolysis
  • Riboflavin

ASJC Scopus subject areas

  • Internal Medicine

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