Short chain Acyl CoA dehydrogenase deficiency
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Short-chain acyl-coenzyme A (CoA) dehydrogenase (SCAD) deficiency is a rare genetic condition that prevents the body from converting certain fats (called short-chain fatty acids) into energy.[1] This condition belongs to a group of disorders known as fatty acid oxidation disorders (FOD). SCAD deficiency is caused by the lack of an enzyme known as short-chain acyl-CoA dehydrogenase, which is involved in the breakdown of short-chain fatty acids. When not enough of this enzyme is present, excessive amounts of fatty acids and ammonia accumulate in the body.[2] The symptoms of SCAD deficiency include a lack of energy, poor growth, and developmental delay. Treatment for this condition typically includes a low-fat diet and avoidance of long periods without food (fasting).[1]
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- More Detailed Information (Found: 11 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 Short chain Acyl CoA dehydrogenase 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 Short chain Acyl CoA dehydrogenase 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 Short chain Acyl CoA dehydrogenase deficiency. Click on the link to view a sample search on this topic.
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Save Babies Through Screening Foundation's website has an information page on short-chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Click on Save Babies Through Screening Foundation to view this information page.
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The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.
- Selected Full-Text Journal Articles
- 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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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.
- Support Groups (Found: 9 Resources)
Groups providing a wide range of services, supportive resources, and information
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- 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
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Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe CW2 6BG
United Kingdom
Phone: 0800 652 3181 (toll free)
Email: info.svcs@climb.org.uk
Web site: www.climb.org.uk
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Save Babies Through Screening Foundation, Inc
4 Manor View Circle
Malvern PA 19355-1622
Phone: 888-454-3383
Fax: 610-647-5757
Email: email@savebabies.org
Web: http://www.savebabies.org
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MUMS National Parent to Parent Network puts parents in touch with other parents who have children with this condition or similar symptoms.
MUMS National Parent to Parent Network
150 Custer Court
Green Bay, Wisconsin 54301-1243
Toll-free: 877-336-5333 (Parents only please)
Telephone: 920-336-5333
Fax: 1-920-339-0995
E-mail: mums@netnet.net
Web site: http://www.netnet.net/mums/
- 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.
- Clinical Trials & Research (Found: 1 Resource)
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CRISP is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies click on the link and enter the disease name in the enter search terms box and click the and button below the box. Then click Submit Query.
- Services (Found: 3 Resources)
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- 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.
- Genetic Services
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We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
- 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.