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