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GTR Home > Conditions/Phenotypes > Very long chain acyl-CoA dehydrogenase deficiency


Excerpted from the GeneReview: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms.

Genes See tests for all associated and related genes

  • Also known as: ACAD6, LCACD, VLCAD, ACADVL
    Summary: acyl-CoA dehydrogenase very long chain

Clinical features


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Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C14:1 +/- other long-chain acylcarnitines, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, 2022
  • GMDI/SERN, 2021
    VLCAD Nutrition Management Guidelines

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