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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.

Tests & Diagnosis

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How is VLCAD deficiency diagnosed?

A diagnosis of VLCAD deficiency may be suspected based on an abnormal newborn screen or the presence of characteristic signs and symptoms. In both of these cases, additional testing can then be ordered to further investigate the diagnosis. This testing may include specialized tests performed on a sample of blood, urine, skin cells, muscle, and/or liver tissue. Genetic testing for changes (mutations) in the ACADVL gene can confirm the diagnosis.[1][2]

GeneReview's Web site offers more specific information about the diagnosis of VLCAD deficiency. Please click on the link to access this resource.
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/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

  • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
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.