Fat oxidation defect presenting with overwhelming ketonuria

Arch Dis Child. 2002 Nov;87(5):428-9; discussion 428-9. doi: 10.1136/adc.87.5.428.

Abstract

Ketonuria accompanying hypoglycaemia is conventionally thought to exclude fat oxidation defects. We describe a 2 year old girl with hypoglycaemic encephalopathy in whom a diagnosis of very long chain acyl CoA dehydrogenase deficiency was suggested on the basis of acylcarnitine analysis despite massive ketonuria.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Brain Diseases, Metabolic / complications
  • Carnitine / analogs & derivatives*
  • Carnitine / metabolism
  • Female
  • Humans
  • Hypoglycemia / complications
  • Infant
  • Ketone Bodies / urine*
  • Oxidation-Reduction

Substances

  • Ketone Bodies
  • acylcarnitine
  • Acyl-CoA Dehydrogenase, Long-Chain
  • Carnitine