Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast

J Inherit Metab Dis. 2015 Mar;38(2):315-22. doi: 10.1007/s10545-014-9750-3. Epub 2014 Aug 21.

Abstract

Children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) have a defect in the degradation of long-chain fatty acids and are at risk of hypoketotic hypoglycemia and insufficient energy production as well as accumulation of toxic fatty acid intermediates. Knowledge on substrate metabolism in children with LCHAD deficiency during fasting is limited. Treatment guidelines differ between centers, both as far as length of fasting periods and need for night feeds are concerned. To increase the understanding of fasting intolerance and improve treatment recommendations, children with LCHAD deficiency were investigated with stable isotope technique, microdialysis, and indirect calometry, in order to assess lipolysis and glucose production during 6 h of fasting. We found an early and increased lipolysis and accumulation of long chain acylcarnitines after 4 h of fasting, albeit no patients developed hypoglycemia. The rate of glycerol production, reflecting lipolysis, averaged 7.7 ± 1.6 µmol/kg/min, which is higher compared to that of peers. The rate of glucose production was normal for age; 19.6 ± 3.4 µmol/kg/min (3.5 ± 0.6 mg/kg/min). Resting energy expenditure was also normal, even though the respiratory quotient was increased indicating mainly glucose oxidation. The results show that lipolysis and accumulation of long chain acylcarnitines occurs before hypoglycemia in fasting children with LCHAD, which may indicate more limited fasting tolerance than previously suggested.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / blood
  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • Age Factors
  • Biomarkers / blood
  • Blood Glucose / metabolism
  • Calorimetry, Indirect
  • Cardiomyopathies / blood
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / diet therapy
  • Cardiomyopathies / enzymology*
  • Carnitine / analogs & derivatives
  • Carnitine / blood
  • Child
  • Child, Preschool
  • Energy Metabolism*
  • Fasting / blood*
  • Female
  • Glycerol / blood
  • Humans
  • Hyperglycemia / blood
  • Hyperglycemia / diagnosis
  • Hyperglycemia / enzymology
  • Isotope Labeling
  • Lipid Metabolism, Inborn Errors / blood
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / diet therapy
  • Lipid Metabolism, Inborn Errors / enzymology*
  • Lipolysis*
  • Male
  • Microdialysis
  • Mitochondrial Myopathies / blood
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / diet therapy
  • Mitochondrial Myopathies / enzymology*
  • Mitochondrial Trifunctional Protein / deficiency
  • Nervous System Diseases / blood
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / diet therapy
  • Nervous System Diseases / enzymology*
  • Postprandial Period
  • Rhabdomyolysis / blood
  • Rhabdomyolysis / diagnosis
  • Rhabdomyolysis / diet therapy
  • Rhabdomyolysis / enzymology*
  • Time Factors

Substances

  • Biomarkers
  • Blood Glucose
  • acylcarnitine
  • 3-Hydroxyacyl CoA Dehydrogenases
  • Mitochondrial Trifunctional Protein
  • Glycerol
  • Carnitine

Supplementary concepts

  • Trifunctional Protein Deficiency With Myopathy And Neuropathy