VLCAD deficiency

Definition:

Very long chain acyl-coA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of fatty acid oxidation. Three phenotypes of VLCAD deficiency have been identified; an early onset, insidious type that causes a potentially lethal cardiomyopathy, a later onset type that presents with hypoketotic hypoglycaemia, and an adult onset form that mainly causes muscular symptoms.

References:

[1]. Amy Brown, et al. Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening. Mol Genet Metab. 2014 Dec;113(4):278-82. [Content Brief]

[2]. B S Andresen, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999 Feb;64(2):479-94. [Content Brief]

[3]. Marcus J Miller, et al. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov;116(3):139-45. [Content Brief]

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