Lethal Very Long-Chain Acyl-Coa Dehydrogenase Deficiency with a Novel Mutation

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Çigdem Seher Kasapkara
Jean_Marc Nuoffer
Gökhan Baysoy
Bedri Aldudak
Mehmet Nuri Özbek
Meltem Akcaboy
Carlo. R. Largiadèr


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.

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