The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency

J Inherit Metab Dis. 1998 Jun;21(4):391-9. doi: 10.1023/a:1005354624735.

Abstract

We studied a 10-year-old patient with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency who was originally (mis)diagnosed as having systemic carnitine deficiency. He was subjected to a fasting test, a long-chain triglyceride (LCT) loading test (1.5 g/kg) and an intravenous carnitine clearance test (0.25 mumol/kg per min). Plasma acylcarnitines were analysed using a quantitative GC-CI-MS method. During fasting, all long-chain acylcarnitines with a chain length of C14 and higher (especially C14:1) increased dramatically. Total plasma long-chain acylcarnitine reached a concentration of 28.6 mumol/L. LCT loading resulted in a moderate increase, mainly of the C18 esters. The carnitine infusion, which led to a supranormal plasma free carnitine concentration, gave only a slight but generalized rise of long-chain acylcarnitines. Although only one patient could be tested, the results suggest that the accumulation of potentially toxic long-chain acylcarnitines in VLCAD deficiency is provoked by fasting, LCT loading and carnitine supplementation. Therapy should be adjusted accordingly.

Publication types

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

MeSH terms

  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Carnitine / administration & dosage
  • Carnitine / analogs & derivatives
  • Carnitine / blood*
  • Carnitine / deficiency
  • Carnitine / urine
  • Child
  • Diagnostic Errors
  • Fasting
  • Humans
  • Male
  • Mitochondria / enzymology*
  • Triglycerides / blood*

Substances

  • Triglycerides
  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenase, Long-Chain
  • Carnitine