Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Alternative names
  • Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase deficiency
  • Mitochondrial trifunctional protein deficiency
About the condition LCHAD deficiency is a long-chain fatty acid oxidation disorder. It is a hereditary disease that is caused by a missing enzyme complex needed to convert fat into energy.
Inheritance Autosomal recessive
Year screening started in WA 2005
Incidence in Australia Currently unknown
Enzyme defect Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase or the mitochondrial trifunctional protein, which participate in fatty acid oxidation.
Symptoms if untreated
  • Hypoketotic hypoglycaemia
  • Hypotonia
  • Hepatomegaly
  • Cardiomyopathy
  • Rhabdomyolysis
  • Peripheral neuropathy
  • Pigmentary retinopathy
  • Coma and death possible
Metabolites on bloodspot screening Increased long-chain hydroxyacylcarnitines (C16OH, C18OH, C18:1OH).
Diagnostic tests
  • Plasma acylcarnitine profile
  • Urine organic acids
  • HADHA and HADHB gene analysis
Treatment
  • Regulation of dietary fat intake
  • Medium-chain triglyceride supplementation
  • Cornstarch supplementation
  • Avoidance of fasting
  • IV glucose during illness
Screening issues None