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Diseases

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
  • VLCADD
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Symptoms

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What are the signs and symptoms of VLCAD deficiency?

There are three forms of VLCAD deficiency: a severe, early-onset form; a hepatic (liver) or hypoketotic hypoglycemic form; and a 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). The heart problems can be life threatening, but are often improved with early treatment and diet modifications.[1][2]

People affected by the hepatic or hypoketotic hypoglycemic form typically develop symptoms during early childhood. These features may include hypoketotic hypoglycemia and enlarged liver (without cardiomyopathy). "Hypoketotic" refers to a low level of ketones, which are produced during the breakdown of fats and used for energy. Hypoglycemia refers to low blood sugar. Together, these signs are called "hypoketotic hypoglycemia."[1]

The episodes of hypoglycemia seen in the early-onset form and hepatic/hypoketotic hypoglycemia form can cause a child to feel weak, shaky and/or dizzy with clammy, cold skin. If not treated, it can lead to coma, and possibly death. Periods of hypoglycemia can also occur with other symptoms as part of a metabolic crisis.[3]

Signs and symptoms of the later-onset episodic myopathic form may include intermittent rhabdomyolysis (breakdown of muscle), muscle cramps, muscle pain, and exercise intolerance. It is the most common form of VLCAD deficiency.[1]
Last updated: 6/28/2015

References
  1. Nancy D Leslie, MD, C Alexander Valencia, PhD, Arnold W Strauss, MD, Jessica Connor, MS, and Kejian Zhang, MD, MBA. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews. September 2014; http://www.ncbi.nlm.nih.gov/books/NBK6816/.
  2. Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD). NORD. 2013; http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/.
  3. Very long chain acyl-CoA dehydrogenase. STAR-G. July 2013; http://www.newbornscreening.info/Parents/fattyaciddisorders/VLCADD.html#3.


Other Names for this Disease
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • VLCADD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.