$Unique_ID{BRK04106} $Pretitle{} $Title{Phosphoglycerate Kinase Deficiency} $Subject{Phosphoglycerate Kinase Deficiency PGK Phosphoglycerokinase Anemia Hemolytic Erythrocyte Phosphoglycerate Kinase Deficiency Anemia Hemolytic Warm Antibody Anemia Hemolytic Acquired Autoimmune Anemia Sideroblastic Anemia Aplastic} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 914: Phosphoglycerate Kinase Deficiency ** IMPORTANT ** It is possible that the main title of the article (Phosphoglycerate Kinase 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 PGK Phosphoglycerokinase Anemia, Hemolytic Erythrocyte Phosphoglycerate Kinase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Anemia, Hemolytic, Warm Antibody Anemia, Hemolytic, Acquired Autoimmune Anemia, Sideroblastic Anemia, Aplastic 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. Phosphoglycerate Kinase Deficiency is an extremely rare X-linked genetic metabolic disorder. Major symptoms may include chronic anemia, neurologic impairment and muscle problems. Symptoms Phosphoglycerate Kinase Deficiency affects males severely. However, one female demonstrated only anemia. Males may have mild to severe neurologic dysfunction including possible mental retardation, paralysis, seizures and/or movement disorders. They may also have behavioral problems, severe anemia and may even lapse into coma during a crisis. Muscles may be painful and there may be breakdown of muscle tissue with the passing of red-brown urine. Weakness, fatigue, and difficulty in exercising may also occur. Causes Phosphoglycerate Kinase Deficiency causes an instability in the red blood cells and neurological problems. This genetic disorder is an X-linked inborn error of metabolism. The gene is on the long arm of the X chromosome at Xq13. 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. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Phosphoglycerate Kinase Deficiency is a very rare disorder that affects both males and females. Males have a more serious form of the disorder. The disorder can be diagnosed at birth when enzymatic testing is done. Only approximately 12 persons with PGK deficiency have been noted in the medical literature. A large Chinese family of several generations has been studied and other persons of other nationalities have also participated in genetic studies of the disorder. There may be more people affected but symptoms can be so minor as to go undiagnosed. Related Disorders Symptoms of the following disorders can be similar to those of Phosphoglycerate Kinase Deficiency. Comparisons may be useful for a differential diagnosis: Warm Antibody Hemolytic Anemia is an autoimmune disorder characterized by the premature destruction of red blood cells by the body's natural defenses against invading organisms (antibodies). The severity of the anemia is determined by the amount of time the red blood cells survive. (For more information on this disorder, choose "Warm Antibody, Hemolytic Anemia" as your search term in the Rare Disease Database). Acquired Autoimmune Hemolytic Anemia is an autoimmune disorder characterized by the premature destruction of red blood cells. It occurs in individuals who previously had a normal red blood cell system. The disorder commonly occurs as the result of, or in conjunction with some other medical condition. (For more information on this disorder, choose "Acquired Autoimmune Hemolytic Anemia" as your search term in the Rare Disease Database). Sideroblastic Anemia is a blood disorder characterized by an impaired ability of the bone marrow to produce normal red blood cells. It is characterized by general weakness, fatigue and difficulty breathing. (For more information on this disorder, choose "Sideroblastic Anemia" as your search term in the Rare Disease Database). Aplastic Anemia is characterized by bone marrow failure. The disorder may occur for unknown reasons (idiopathic) or it may be the result of a toxic reaction to radiation, certain drugs, or chemicals. The patient may first become aware of the disease by the progressive onset of weakness, fatigue, and lassitude. (For more information on this disorder, choose "Aplastic Anemia" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Phosphoglycerate Kinase Deficiency may consist of iron supplements and blood transfusions when needed. The disorder is apparent at birth when enzymatic testing of the blood is done. The avoidance of strenuous exercise when evidence that muscle breakdown has taken place is very important and special care is needed during neurologic crisis to avoid life-threatening situations. 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 hereditary 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 Phosphoglycerate Kinase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 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. Pp. 1422, 1704. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. P. 2351. HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., P. 359. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. P. 127. X-LINKED SIDEROBLASTIC ANEMIA AND ATAXIA: LINKAGE TO PHOSPHOGLYCERATE KINASE AT Xq13., W.H. Raskind, et al.; Am J Hum Genet, February, 1991, (issue 48 (2)). Pp. 335-341. CLONALITY IN MYELOPROLIFERATIVE DISORDERS: ANALYSIS BY MEANS OF THE POLYMERASE CHAIN REACTION., D.G. Gilliland, et al.; Proc Natl Acad Sci USA, August 1, 1991, (issue 88 (15)). Pp. 6848-6852. RED CELL ENZYMOPATHIES OF THE GLYCOLYTIC PATHWAY., K.R. Tanaka, et al.; Semin Hematol, April, 1990, (issue 27 (2)). Pp. 165-185.