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Medium Chain Acyl CoA Dehydrogenase Deficiency
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Copyright 1988, 1989, 1996, 1998, 2005
Synonyms of Medium Chain Acyl CoA Dehydrogenase Deficiency
- ACADM Deficiency
- Carnitine Deficiency Secondary to MCAD Deficiency
- Dicarboxylicaciduria due to defect in Beta-Oxidation of Fatty Acids
- Dicarboxylicaciduria due to MCADH Deficiency
- MCAD Deficiency
- Nonketotic Hypoglycemia and Carnitine Deficiency due to MCAD Deficiency
Disorder Subdivisions
General Discussion
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase. This enzyme is found to be most active in the liver, certain white blood cells (leukocytes), and certain connective tissue cells (fibroblasts) and is necessary for the breakdown (oxidation) of certain fats (medium chain fatty acids). Failure to break down these fats can lead to the abnormal accumulation of fatty acids in the liver and the brain. Abnormally low levels of the MCAD enzyme may also hamper or interrupt other processes associated with the metabolism of fatty acids.
In infants with MCAD deficiency, symptoms may include recurrent episodes of unusually low levels of a certain sugar (glucose) in the blood (hypoglycemia), lack of energy (lethargy), vomiting, and/or liver malfunction. These symptoms are most frequently triggered when an affected infant does not eat for an extended period of time (fasting). In some cases, a viral illness (e.g., upper respiratory infection) that limits food intake may cause the symptoms to occur. MCAD deficiency is the most common disease in a group of disorders that involve abnormalities of fatty acid metabolism (fatty acid oxidation disorders [FODs]). MCAD deficiency is inherited as an autosomal recessive trait.
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Organizations related to Medium Chain Acyl CoA Dehydrogenase Deficiency
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 080-0 6-52 3181
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- FOD (Fatty Oxidation Disorders) Family Support Group
2041 Tomahawk
Okemos MI 48864
Phone #: 517-381-1940
800 #: --
e-mail: deb@fodsupport.org
Home page: http://www.fodsupport.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire None CW10 0NQ
Phone #: 016-068-3719
800 #: --
e-mail: N/A
Home page: N/A
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- MitoAction
14 Pembroke Street
Medford MA 02155
Phone #: 888-648-6228
800 #: N/A
e-mail: info@mitoaction.org
Home page: http://www.MitoAction.org
- NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: --
e-mail: NDDIC@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
- Organic Acidaemias UK
5 Saxon Road
Ashford
Middlesex Intl TW15 1QL
Phone #: 44--178-4-245989
800 #: --
e-mail: davidpriddy@bigfoot.com
Home page: N/A
- Organic Acidemia Association
13210 35th Avenue North
Plymouth MN 55441
Phone #: 763-559-1797
800 #: --
e-mail: oaanews@aol.com
Home page: http://www.oaanews.org
- United Mitochondrial Disease Foundation (UMDF)
8085 Saltsburg Road
Suite 201
Pittsburgh PA 15239
Phone #: 412-793-8077
800 #: 888-317-8633
e-mail: info@umdf.org
Home page: http://www.umdf.org
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