Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

About the condition	VLCAD 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 very long-chain acyl-CoA dehydrogenase, an enzyme that participates in fatty acid oxidation
Symptoms if untreated	Hypoketotic hypoglycaemia Cardiomyopathy Hepatomegaly Rhabdomyolysis Sudden death possible Adult-onset myopathy
Metabolites on bloodspot screening	Increased long-chain acylcarnitines (C14:1 and C14) Increased C14:1/C2 ratio
Diagnostic tests	Plasma acylcarnitine profile Urine organic acids Lymphocyte VLCAD enzymology ACADVL gene analysis
Treatment	High-carbohydrate, low-fat diet Avoidance of long-chain fatty acids Medium-chain triglyceride supplementation Cornstarch supplementation Possible carnitine supplementation Avoidance of fasting IV glucose during illness
Screening issues	Later-onset and milder variants occur.