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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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Overview


VLCAD deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with this condition have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids. Signs and symptoms may occur during infancy, childhood or adulthood depending on the form of the condition present, and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Affected children are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. Symptoms that begin in adolescence or adulthood tend to be milder and usually do not involve heart problems. Mutations in the ACADVL gene cause VLCAD deficiency, and this disorder is inherited in an autosomal recessive manner.[1]
Last updated: 12/10/2013

References

  1. VLCAD deficiency. Genetics Home Reference Web site. 11/2009; http://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency. Accessed 1/1/1900.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on VLCAD deficiency have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on VLCAD deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss VLCAD deficiency. Click on the link to view a sample search on this topic.