MCAD deficiency
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Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an inherited metabolic condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with MCAD deficiency have inadequate levels of an enzyme required for the step that metabolizes a group of fats called medium-chain fatty acids. Mutations in the ACADM gene cause MCAD deficiency.[1]
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- More 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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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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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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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss MCAD deficiency. Click on the link to go to OMIM and review these resources.
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PubMed lists journal articles that discuss MCAD deficiency. Click on the link to go to PubMed and review citations to these articles.
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Genetics Home Reference (GHR) contains a condition summary on MCAD deficiency. Click on the link to go to GHR and review this summary.
- Management Guidelines
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Selected Full-Text Journal Articles
- Newborn Screening
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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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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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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.
- 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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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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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
- 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.
- More Search Tools (Found: 1 Resources)
Resources to help you find more information on this topic
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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.