A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure

• Izumi Rumiko

  Department of Neurology, Tohoku University School of Medicine, Japan

• Suzuki Naoki

  Department of Neurology, Tohoku University School of Medicine, Japan

• Nagata Mari

  Department of Neurology, Tohoku University School of Medicine, Japan

• Hasegawa Takafumi

  Department of Neurology, Tohoku University School of Medicine, Japan

• Abe Yu

  Department of Medical Genetics, Tohoku University School of Medicine, Japan

• Saito Yuka

  Department of Medical Genetics, Tohoku University School of Medicine, Japan

• Mochizuki Hiroshi

  Department of Neurology, South Miyagi Medical Center, Japan

• Tateyama Maki

  Department of Neurology, Tohoku University School of Medicine, Japan

• Aoki Masashi

  Department of Neurology, Tohoku University School of Medicine, Japan

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 electron-transferring-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.<br>

Journal

• Internal Medicine

  Internal Medicine 50 (21), 2663-2668, 2011

  The Japanese Society of Internal Medicine

Keywords

• multiple acyl-CoA dehydrogenase deficiency (MADD)
• lipid storage myopathy
• recurrent rhabdomyolysis
• acute renal failure
• riboflavin
• electron-transferring-flavoprotein dehydrogenase (<i>ETFDH</i>)

Details

• CRID: 1390001204870710656
• NII Article ID: 130001288632
• DOI: 10.2169/internalmedicine.50.5172
• ISSN: 13497235
• ISSN: 09182918
• Web Site: http://www.jstage.jst.go.jp/article/internalmedicine/50/21/50_21_2663/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2012323384
• Text Lang: en
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
• Abstract License Flag: Disallowed