D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)

Lancet. 2003 Apr 26;361(9367):1433-5. doi: 10.1016/S0140-6736(03)13105-4.

Abstract

Cardiomyopathy and leukodystrophy are life-threatening complications of multiple acyl-CoA dehydrogenase deficiency (MADD). A 2-year-old boy with this disorder developed rapidly progressive leukodystrophy resulting in complete paralysis within 4 months. Within a week of starting sodium-D,L-3-hydroxybutyrate he had improved. After 2 years, neurological function returned, including walking independently, with progressive improvement of brain MRI. Two additional infants with MADD developed life-threatening cardiomyopathy unresponsive to conventional treatment. On sodium-D,L-3-hydroxybutyrate treatment their cardiac contractility showed progressive and sustained improvement. D,L-3-hydroxybutyrate is a therapeutic option for cerebral and cardiac complications in severe fatty acid oxidation defects.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxybutyric Acid / therapeutic use*
  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenases / deficiency*
  • Brain / drug effects
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Stereoisomerism
  • Treatment Outcome

Substances

  • Acyl-CoA Dehydrogenases
  • Acyl-CoA Dehydrogenase
  • 3-Hydroxybutyric Acid