VLCAD deficiency
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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 metabolizes a group of fats called very long-chain fatty acids. Signs and symptoms of this disorder typically occur during infancy or childhood and include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. These 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]
References
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VLCAD deficiency. Genetics Home Reference Web site. February 2007 Available at: http://tinyurl.com/3s2yxe. Accessed June 9, 2008.
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- More Detailed Information (Found: 10 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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Genetics Home Reference (GHR) contains a condition summary on VLCAD deficiency. Click on the link to go to GHR and review this summary.
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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.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss VLCAD deficiency. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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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.
- Newborn Screening
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The U.S. National Newborn Screening Status Report lists the status of newborn screening state by state and is available on the National Newborn Screening and Genetic Resource Center (NNSGRC) Web site. The 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. Click on the link above to view the report.
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Liebig et al. Neonatal Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: Enzymatic and Molecular Evaluation of Neonates with Elevated C14:1-Carnitine Levels. Pediatrics 2006; 118; 1065-1069.
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An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
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An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
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Wood, et al. Diagnosis of Very Long Chain Acyl-Dehydrogenase Deficiency From an Infant's Newborn Screening Card. Pediatrics. 2001;108:e19.
- Support Groups (Found: 6 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
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United Mitochondrial Disease Foundation
8085 Saltsburg Road Suite 201
Pittsburg PA 15239
Toll-free: 1-888-317-UMDF
Phone: 412-793-8077
Fax: 412-793-6477
E-mail: info@umdf.org
Web site: http://www.umdf.org
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FOD (Fatty Oxidation Disorder) Family Support Group
2041 Tomahawk
Okemos MI 48864
Phone: 517-381-1940
Email: deb@fodsupport.org
Web site: www.fodsupport.org
- Live Chat
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Services (Found: 2 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Ask-an-Expert
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You can submit a question to Ask the Mito DocSM , a service of the United Mitochondrial Diseases Foundation. Information contained in Ask the Mito DocSM is for informational and educational purposes only.
http://www.umdf.org/site/c.dnJEKLNqFoG/b.3042115/
- Testing
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
- Scientific Conferences (Found: 1 Resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health
- Upcoming Conferences
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United Mitochondrial Disease Foundation Annual Symposium , June 24, 2009 - June 27, 2009
Description: The objectives of this symposium are to (1) describe the latest findings regarding mitochondrial diseases; (2) share research findings and award new research grants; (3) explore the clinical manifestations of mitochondrial disorders, including diagnosis and treatment considerations, and understand the concepts of mitochondrial disease therapy; and (4) evaluate the links between mitochondrial disease and a host of more well-known diseases.
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.