$Unique_ID{BRK04254} $Pretitle{} $Title{Tarui Disease} $Subject{Tarui Disease Glycogen Disease of Muscle Glycogen Storage Disease VII Glycogenosis Type VII Muscle Phosphofructokinase Deficiency Phosphofructokinase Deficiency McArdle Disease Pompe Disease Forbes Disease } $Volume{} $Log{} Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders, Inc. 397: Tarui Disease ** IMPORTANT ** It is possible the main title of the article (Tarui Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Glycogen Disease of Muscle Glycogen Storage Disease VII Glycogenosis Type VII Muscle Phosphofructokinase Deficiency Phosphofructokinase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: McArdle Disease Pompe Disease Forbes Disease 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. Tarui Disease is a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by a lack of the enzyme phosphofructokinase in muscle and a partial deficiency of the enzyme in red blood cells. The enzyme deficiency prevents the breakdown of glucose into energy. Tarui Disease is characterized by pain and cramps in muscles during heavy exercise. Symptoms Symptoms of Tarui Disease include pain and cramps in muscles during strenuous exercise. These symptoms usually are not severe. Causes Tarui Disease is a disorder inherited through autosomal recessive genes. The condition is caused by a deficiency of the enzyme phosphofructokinase. This enzyme normally converts fructose-6-phosphate to fructose-1,6-diphosphate. This is the controlling step in the breakdown of glucose into available energy. Therefore, energy is not available to a muscle during heavy exercise. Consequently, pain and cramps occur in the muscle. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene 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 show no 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. Affected Population All Glycogen Storage Diseases together affect about 1 in 40,000 persons in the United States. Tarui Disease affects males and females in equal numbers. Related Disorders Glycogen Storage Diseases are caused by inborn errors of metabolism in which the balance between stored energy (glycogen) and available energy (sugar or glucose) is disturbed. Too much glycogen to be stored in the liver and muscles and too little sugar available in the blood. The following disorders are similar to Tarui Disease. These can be compared to Tarui Disease for a differential diagnosis: McArdle Disease is a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by an inborn lack of the enzyme myophosphorylase. This enzyme is needed for the breakdown of glycogen (the body's form of stored energy) into sugar (glucose). In McArdle Disease the breakdown of glucose cannot take place. Severe muscle cramps occur as a result of heavy exercise. Pompe Disease is a glycogen storage disease. This hereditary metabolic disorder is caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase). This enzyme deficiency causes excess amounts of glycogen (the stored form of energy that comes from carbohydrates) to accumulate in all body tissues, especially in the heart muscle. Forbes Disease is a glycogen storage disorder inherited through autosomal recessive genes. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excess amounts of glycogen (the stored form of energy that comes from carbohydrates) to be deposited in the liver, muscles and heart. The nerves ic the back of the legs and on the sides of the heel and foot (sural nerves) also accumulate excess glycogen. The heart may be involved in some cases. For more information on the above disorders, choose "McArdle," "Pompe," and "Forbes" as your search terms in the Rare Disease Database. Therapies: Standard Treatment of Tarui Disease is symptomatic and supportive. Strenuous exercise should be avoided to prevent muscle pain and cramps. Therapies: Investigational Dr. Y.T. Chen at Duke University Medical Center, at the request of the Glycogen Storage Disease Association, is collecting DNA from patients with Glycogen Storage Disease Type I to form a DNA bank for GSDI. Interested patients may contact the Glycogen Storage Diseases Association for further information. The address and phone number of the organization are listed in the Resources section of this report. This disease entry is based upon medical information available through February 1991. 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 Tarui Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Glycogen Storage Disease P.O. Box 896 Durant, IA 52747 (319) 785-6038 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: 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 EXCESS PURINE DEGRADATION IN EXERCISING MUSCLES OF PATIENTS WITH MUSCLE GLYCOGEN STORAGE DISEASE TYPES V AND VII: I. Mineo, et al.; Journal Clin Invest (August 1985: issue 76,2). Pp. 556-560.