$Unique_ID{BRK03567} $Pretitle{} $Title{Carnitine Palmityltransferase Deficiency} $Subject{Carnitine Palmityltransferase Deficiency CPTD CPT Deficiency Myopathy with Deficiency of Carnitine Palmityltransferase Myopathy-Metabolic Carnitine Palmityltransferase Deficiency Eaton-Lambert Syndrome Myopathy Scapuloperoneal Fibromyalgia LCAD Deficiency} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 915: Carnitine Palmityltransferase Deficiency ** IMPORTANT ** It is possible that the main title of the article (Carnitine Palmityltransferase Deficiency) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms CPTD CPT Deficiency Myopathy with Deficiency of Carnitine Palmityltransferase Myopathy-Metabolic, Carnitine Palmityltransferase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Eaton-Lambert Syndrome Myopathy, Scapuloperoneal Fibromyalgia LCAD Deficiency General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Carnitine Palmityltransferase Deficiency is a metabolic disorder that affects the muscle's ability to function properly. It is a very rare genetic disorder. CPT Deficiency is a disease of muscle fat (lipid) metabolism. Strenuous exercise triggers the symptoms which leads to breakdown of muscle tissue and appearance of muscle hemoglobin in the urine. Major symptoms may include muscle pain, fatigue and passing of dark red-brown urine (myoglobinuria) after strenuous exercise. Symptoms Carnitine Palmityltransferase Deficiency is a very rare metabolic disease. It is characterized by easy fatigue during prolonged exercise, disabling muscle pain that sometimes lasts for days and fat (lipid) levels in the muscles that usually remain the same or increase only slightly. Destruction of skeletal muscles (rhabdomyolysis) is sometimes followed by passage of red- brown urine (myoglobinuria). The combination of these conditions may sometimes become life-threatening. CPT Deficiency is more apparent in diabetics and cases of malnutrition. The disorder usually becomes noticeable during adulthood but may affect children in a more serious form. Life-threatening rhabdomyolysis and myoglobinuria may follow prolonged exercise, viral illness, sleep and food deprivation and over-exposure to cold, especially in diabetic patients or persons on a high fat diet. As a precaution, siblings of CPT patients should be tested for the disorder to help prevent possible development of the symptoms. Causes Carnitine Palmityltransferase Deficiency is thought to be caused by an autosomal recessive mode of inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In autosomal recessive disorders the condition does not appear unless a person inherits the same defective gene from the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. CPT Deficiency usually affects adults. However, a more serious form of the disorder sometimes affects children. Symptoms can occur as a response to extreme stress, over-exercise, malnutrition and cold, especially in diabetic persons with the disorder. Muscle fat levels usually remain the same or are only slightly elevated during attacks, and there are usually no symptoms between attacks. The gene responsible for the disorder is assigned to chromosome 1 in the region of 1q12-1pter. Affected Population Carnitine Palmityltransferase Deficiency is a very rare disorder that is discovered in males more often than females. It usually becomes apparent in adulthood. However, a more serious form may affect children. When this disorder is diagnosed in a family each child of that couple should be checked to determine whether others are affected by CPT Deficiency so precautions can be taken to avoid the symptoms of the illness. Related Disorders Symptoms of the following disorders can be similar to those of Carnitine Palmityltransferase Deficiency. Comparisons may be useful for a differential diagnosis: Eaton-Lambert Syndrome is a neuromuscular disorder that includes muscle weakness and fatigue especially of the pelvic and thigh muscles. Patients may not have deep tendon reflexes and lower limbs are affected more often than upper limbs. (For more information on this disorder, choose "Eaton- Lambert" as your search term in the Rare Disease Database). Scapuloperoneal Myopathy is a genetic disorder characterized by a weakness and wasting of muscles. Symptoms are usually limited to the shoulder blade area and the smaller of the two leg muscle groups below the knee. The disorder may begin in childhood or adulthood. (For more information on this disorder, choose "Scaploperoneal Myopathy" as your search term in the Rare Disease Database). Fibromyalgia is a chronic disorder characterized by pain throughout much of the body. The pain may begin gradually or have a sudden onset. Other symptoms are muscle spasms, fatigue, muscle tissue stiffness and non- restorative sleep. The exact cause of this disorder is unknown. (For more information on this disorder, choose "Fibromyalgia" as your search term in the Rare Disease Database). LCAD Deficiency is a secondary Carnitine deficiency resulting in low blood sugar, abnormal liver function, abnormally low ketones in the blood and acidosis. Poor muscle tone, fatigue and vomiting occur after a viral illness. This disorder can occur in any age group from the prenatal stage into adulthood. Left untreated it can result in physical and mental retardation and may become life threatening. Therapies: Standard Carnitine Palmityltransferase Deficiency can be diagnosed by enzymatic studies and muscle biopsy. It is important for persons with this metabolic problem to first be aware of the limitations of the disorder, especially if the person is diabetic. Patients should exercise in moderation, eat adequate amounts of food, avoid stress and high fat foods, and keep warm. Supplementing carnitine in the diet is not helpful in CP Deficiency. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on inborn errors of metabolism is ongoing. Scientists are studying the causes of these disorders and trying to design enzyme replacement therapies that will return a missing enzyme to the body. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through May 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Carnitine Palmityltransferase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Diabetes, Digestive & Kidney Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-3583 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Road Crewe CW1 1XN, England (0270) 250244 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. P. 1365. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 388, 889, 911. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1200-1201. REGULATION OF CARNITINE PALMITYLTRANSFERASE IN VIVO BY GLUCAGON AND INSULIN. Brady, P.S. et al.; Biochem J, March 15, 1989, (issue 258 (3)). Pp. 677-682. CARNITINE PALMITYLTRANSFERASE IN HUMAN ERYTHROCYTE MEMBRANE. PROPERTIES AND MALONYL-CoA SENSITIVITY. Ramsay, R.R., et al,; Biochem J, May 1, 1991, (issue 275 (pt. 3)). Pp. 685-688. CHRONIC MYOPATHY WITH A PARTIAL DEFICIENCY OF THE CARNITINE PALMITYLTRANSFERASE ENZYME., Kieval, R.I., et al.; Arch Neurol, May, 1989, (issue 46 (5)). Pp. 575-576. FATAL RHABDOMYOLYSIS FOLLOWING INFLUENZA INFECTION IN A GIRL WITY FAMILIAL CARNITINE PALMITYLTRANSFERASE DEFICIENCY., Kelly, K.J., et al.; Pediatrics, August, 1989, (issue 84 (2)). Pp. 312-316.