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Carnitine Deficiency Syndrome


Synonyms Carnitine Deficiency, Myopathic Carnitine Deficiency, Primary Carnitine Deficiency, Secondary Muscle Carnitine Deficiency Renal Reabsorption of Carnitine, Defect Disorder Subdivisions Myopathic Carnitine Deficiency Systemic Carnitine Deficiency Carnitine Deficiency Syndrome is a rare metabolic disorder that may be inherited in some cases, or occur as a result of other metabolic disorders. Carnitine functions in the body as a carrier of fatty acids to the energy centers in muscles (mitochondria). A deficiency of carnitine, normally produced by the liver and kidneys, can result in extreme muscle weakness and other related symptoms. Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: +44 870 7700 325 Fax: +44 870 7700 327 Email: info@climb.org.uk Internet: http://www.CLIMB.org.uk March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com United Mitochondrial Disease Foundation 8085 Saltsburg Road Suite 201 Pittsburgh, PA 15239 United States Tel: 4127938077 Fax: 4127936477 Email: info@umdf.org Internet: http://www.umdf.org NIH/National Institute of Diabetes, Digestive & Kidney Diseases Endocrine Diseases Metabolic Diseases Branch 2 Information Way Bethesda, MD 20892-3570 Tel: (301)654-3810 Fax: (301)496-7422 Email: NDDIC@info.niddk.nih.gov Internet: http://www.niddk.nih.gov FOD (Fatty Oxidation Disorders) Family Support Group 2041 Tomahawk Okemos, MI 48864 USA Tel: 5173811940 Email: deb@fodsupport.org Internet: http://www.fodsupport.org MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: 9203365333 Fax: 9203390995 Tel: 8773365333 Email: mums@netnet.net Internet: http://www.netnet.net/mums/