Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy

Ann Neurol. 1989 May;25(5):479-84. doi: 10.1002/ana.410250510.

Abstract

A 12-year-old girl was shown to have carnitine-deficient lipid storage myopathy and organic aciduria compatible with multiple acylcoenzyme A (acyl-CoA) dehydrogenase deficiency. In muscle mitochondria, activities of both short-chain acyl-CoA dehydrogenase (SCAD) and medium-chain acyl-CoA dehydrogenase (MCAD) were 35% of normal. Antibodies against purified SCAD, MCAD, and electron-transfer flavoprotein were used for detection of cross-reacting material (CRM) in the patient's mitochondria. Western blot analysis showed absence of SCAD-CRM, reduced amounts of MCAD-CRM, and normal amounts of electron-transfer flavoprotein-CRM. The patient, who was unresponsive to treatment with oral carnitine, improved dramatically with daily administration of 100 mg oral riboflavin. Increase in muscle bulk and strength and resolution of the organic aciduria were associated with normalization of SCAD activity and "reappearance" of SCAD-CRM. In contrast, both MCAD activity and MCAD-CRM remained lower than normal. These results suggest that in some patients with multiple acyl-CoA dehydrogenase deficiency riboflavin supplementation may be effective in restoring the activity of SCAD, and possibly of other mitochondrial flavin-dependent enzymes.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenases / deficiency*
  • Acyl-CoA Dehydrogenases / metabolism
  • Carnitine / therapeutic use
  • Child
  • Female
  • Humans
  • Metabolic Diseases / drug therapy*
  • Metabolic Diseases / physiopathology
  • Muscular Diseases / drug therapy
  • Muscular Diseases / enzymology*
  • Muscular Diseases / physiopathology
  • Riboflavin / therapeutic use*

Substances

  • Acyl-CoA Dehydrogenases
  • Carnitine
  • Riboflavin