MCAD deficiency is inherited in an autosomal recessive manner and only results from mutations in the ACADM gene. MCAD deficiency is the most common inherited defect in beta oxidation of saturated fatty acids. Most patients present between 3-15 months of age, with hypoketotic hypoglycaemia (usually triggered by an intercurrent illness or period of fasting) which may be lethal. However, MCAD deficiency presentation may be highly variable with several case reports from both neonates and adults. Importantly, a large number of individuals who have inherited two disease-causing mutations have been found to be asymptomatic. The pathogenic c.985A>G variant (p.Lys329Glu) accounts for some 50% of homozygosity and 40% of heterozygosity respectively.
Genetics - Molecular Pathology
MOLP
beta oxidation
MCAD deficiency
4 weeks
7312