LCHAD - deficiency


  •  LCHAD = Long Chain 3- Hydroxyacyl - CoA Dehydrogenase
  • congenital metabolic defect in the breakdown of long-chain fatty acids
  • Disturbance of energy production from fats due to defective fatty acid oxidation
  • since 2005 target disease in "expanded newborn screening“
  • Prevalence: 1:200 000


  •  the enzyme LCHAD is part of the mitochondrial trifunctional protein complex consisting of 3 enzymes:

 Long-chain 3 ketoacyl- CoA thiolase

 Long-chain 3 hydroxyacyl- CoA dehydrogenase (LCHAD)

 Long-chain enoyl- CoA hydratase


  • Differentiation from TFP- deficiency is possible on the basis of a genetic examination
  • Mutation analysis in the HADHA (LCHAD -a) gene (with a uniform mutation in the majority of all Central European patients) or HADHB (LCHAD-ß) gene
  • Mothers of affected children can develop the HELLP- syndrome (haemolysis, elevated liver enzymes, low platelet count) during pregnancy, which often results in the children being born prematurely
  • Findings from the screening lab:

increased concentration of long-chain hydroxylated acetylcarnitines (C14OH, C16OH, C18:1OH)


  • the examination of the organic acids in the urine and the typical acylcarnitine profile in the blood allows a suspected diagnosis, but cannot distinguish LCHAD deficiency from MTP deficiency
  • the diagnosis can only be confirmed by detection of the G1528C mutation or by determination of the enzyme activity
  • most frequent mutation G1528C (90% of mutant alleles)

 (Source: )

fat-reduced, fat-modified, carbohydrate-accentuated diet with short fasting times