Important It is possible that the main title of the report Medium Chain Acyl CoA Dehydrogenase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Dicarboxylicaciduria due to defect in Beta-Oxidation of Fatty Acids
Carnitine Deficiency Secondary to MCAD Deficiency
Dicarboxylicaciduria due to MCADH Deficiency
Nonketotic Hypoglycemia and Carnitine Deficiency due to MCAD Deficiency
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.
Children Living with Inherited Metabolic Diseases (CLIMB) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: 0845 241 2174 Tel: 800 652 3181 Email: email@example.com Internet: http://www.CLIMB.org.uk
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FOD (Fatty Oxidation Disorders) Family Support Group PO Box 54 Okemos, MI 48864 USA Tel: (517)381-1940 Fax: (866)290-5206 Email: email@example.com Internet: http://www.fodsupport.org
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