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Diseases

Genetic and Rare Diseases Information Center (GARD)

VLCAD deficiency


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.

Overview

VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes (mutations) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 6/29/2015

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. VLCAD deficiency. Genetics Home Reference Web site. 11/2009; http://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency.
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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

  • Online Mendelian Inheritance in Man (OMIM) is a 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.
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.