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Genetic and Rare Diseases Information Center (GARD)

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VLCAD deficiency

Other Names for this Disease
  • Very long-chain acyl-CoA dehydrogenase deficiency
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What are the signs and symptoms of VLCAD deficiency?

There are three forms of VLCAD deficiency: the severe, early-onset form; the hepatic (liver) or hypoketotic hypoglycemic form; and the later-onset episodic myopathic form.[1]

Signs and symptoms of the severe, early-onset form occur in the first few months of life and include cardiomyopathy (heart disease), pericardial effusion (fluid around the heart), heart arrhythmias (abnormal heart beat), low muscle tone, enlarged liver, and intermittent hypoglycemia (low blood sugar).[1] The cardiomyopathy and heart arrhythmias can be life threatening, but can be improved with early, intensive supportive care and diet changes.

Signs and symptoms of the hepatic or hypoketotic hypoglycemic form occur during early childhood and include hypoketotic hypoglycemia and enlarged liver (without cardiomyopathy).[1] “Hypoketotic” refers to a low level of ketones, which are products of fat breakdown that are used for energy. Hypoglycemia refers to low blood sugar. Together these signs are called “hypoketotic hypoglycemia."  Hypoketotic hypoglycemia can cause a loss of consciousness or seizures.

Signs and symptoms of the later-onset episodic myopathic form may include intermittent rhabdomyolysis (breakdown of muscle), muscle cramps, muscle pain, and exercise intolerance.[1]
Last updated: 12/10/2013

  1. Leslie ND, Tinkle BT, Strauss AW, Shooner K, Zhang K. Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews. 2009; Accessed 10/23/2009.