Lethal very long-chain acyl-coa dehydrogenase deficiency with a novel mutation

Abstract

Very long chain acyl-CoA dehydrogenase deficiency is an autosomal recessive genetic disorder in which the first step in the mitochondrial β-oxidation of fatty acids for 14-20 carbons is defective. Clinical presentation is heterogeneous ranging from the severe neonatal form presenting with hypo-ketotic hypoglycemia, liver dysfunction and rapidly fatal cardiomyopathy with episodes of hypo-ketotic hypoglycemia in infants. Herein we report a patient with novel homozygous missense mutation c. 1391C>A in exon 14 with a severe neonatal onset type who presented with hypoketotic hypoglycemia, cardiomyopathy and hepatomegaly.