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Lethal Very Long-Chain Acyl-Coa Dehydrogenase Deficiency with a Novel Mutation
2019
Journal:  
Gazi Medical Journal
Author:  
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.

Keywords:

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Gazi Medical Journal

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 1.186
Cite : 524
Details
Gazi Medical Journal