$Unique_ID{BRK03773} $Pretitle{} $Title{Glucose-6-Phosphate Dehydrogenase Deficiency} $Subject{Glucose-6-Phosphate Dehydrogenase Deficiency G6PD Deficiency Favism Acute Hemolytic Anemia} $Volume{} $Log{} Copyright (C) 1990 National Organization for Rare Disorders, Inc. 774: Glucose-6-Phosphate Dehydrogenase Deficiency ** IMPORTANT ** It is possible that the main title of the article (Glucose-6-Phosphate Dehydrogenase 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 G6PD Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Favism Acute Hemolytic Anemia 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. Glucose-6-Phosphate Dehydrogenase Deficiency is an inherited metabolic disorder which may never produce any symptoms in affected individuals. However, the disorder may be the cause of other serious medical conditions. Glucose-6-Phosphate Dehydrogenase is an enzyme that is found in all cells and is essential in sugar (glucose) metabolism. It also provides red blood cells with defense against destruction by certain drugs. A deficiency of this enzyme may result in the premature destruction of red blood cells (Hemolytic Anemia) or a serious reaction to the consumption of fava beans (Favism). Symptoms Most individuals with Glucose-6-Phosphate Dehydrogenase Deficiency show no symptoms. When symptoms do occur, they are usually similar to those of Acute Hemolytic Anemia including chills, fever, shock and pain in the back and abdomen. Symptoms may vary in intensity, ranging from a chronic but mild form of anemia to a life-threatening condition characterized by the passing of blood in the urine (hemoglobinuria) which can lead to shock and kidney failure. (For more information on Acute Hemolytic Anemia, see the related disorders section of this report.) Drugs which may cause an episode of Acute Hemolytic Anemia in individuals with G6PD Deficiency include Acetanilid, Nalidixic Acid, Nitrofurantoin, Phenylhydrazine, Sulfanilimide, Toluidine Blue, Methylene Blue, Naphthalene, Pamaquine, Sulfacetamide, Sulfapyridine, Trinitrotoluene, Primaquine, Niridazole, Pentaquine, Sulfamethoxazole and Thiacolesulfone. Aspirin, certain derivatives of vitamin K, eating fava beans, contracting acute viral or bacterial infections and diabetes acidosis may also cause an attack of Acute Hemolytic Anemia in people with G6PD Deficiency. Causes Glucose-6-Phosphate Dehydrogenase Deficiency is inherited as an X-linked genetic trait. (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. X-linked disorders are conditions which are coded on the X chromosome. Females have two X chromosomes and males have one X chromosome and one Y chromosome. The affected male always has a more severe form of an X-linked disorder because they do not have a normal X chromosome to compensate for the genetic defect. Affected Population Glucose-6-Phosphate Dehydrogenase Deficiency is one of the most common forms of enzyme deficiency. It is estimated to affect 400 million people in the world with the highest rates of prevalence occurring in tropical Africa, the Middle East, tropical and subtropical Asia, areas of the Mediterranean and New Guinea. Over 300 different varieties of this disorder have been identified, resulting from mutations of the Glucose-6-Phosphate Dehydrogenase gene. Certain varieties are more common in the American Black male population. It is rarely diagnosed because most people do not experience serious symptoms unless they are exposed to certain drugs. Related Disorders The following disorders may be associated with Glucose-6-Phosphate Dehydrogenase Deficiency as secondary characteristics. They are not necessary for a differential diagnosis: Favism is a disorder which occurs following the consumption of fava beans or the inhalation of the pollen from the fava plant flower. It occurs in certain individuals with the genetic enzyme abnormality, Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency). It is believed that the chemicals divicine and isouramil, which are found in high concentrations in fava beans, are responsible for the severe reaction in G6PD deficient individuals. Favism usually has a sudden onset, occurring only minutes after inhaling the fava pollen, or within 5 to 24 hours after eating fava beans. Symptoms include fever, jaundice, pallor, increased heart rate, dark red urine, headache, severe anemia and possibly coma. Affected individuals also become weak and suffer pain in the back and abdomen. Acute Hemolytic Anemia is a disorder characterized by the premature destruction of red blood cells. Normally red blood cells have a life span of approximately 120 days before they are removed by the spleen. In an individual affected with Acute Hemolytic Anemia, the red blood cells are destroyed prematurely and bone marrow production of new cells can no longer compensate for their loss. Individuals with Glucose-6-Phosphate Dehydrogenase Deficiency are highly susceptible to Acute Hemolytic Anemia, which may be triggered by the use of certain medications. Symptoms of Acute Hemolytic Anemia may include chills, fever, shock and pain in the back and abdomen. Treatment is individualized and may include iron replacement therapy or removal of the spleen (splenectomy). (For more information on this disorder, choose "Acquired Autoimmune Hemolytic Anemia" as your search term in the Rare Disease Database.) Therapies: Standard Glucose-6-Phosphate Dehydrogenase Deficiency is best managed by preventative measures. Individuals should be screened for the G6PD defect before being treated with certain drugs such as antimalarials and other drugs including Acetanilid, Nalidixic Acid, Nitrofurantoin, Phenylhydrazine, Sulfanilimide, Toluidine Blue, Methylene Blue, Naphthalene, Pamaquine, Sulfacetamide, Sulfapyridine, Trinitrotoluene, Primaquine, Niridazole, Pentaquine, Sulfamethoxazole and Thiazolesulfone. If red blood cells are being destroyed (hemolysis), the causative drug should be discontinued under a physician's supervision and good hydration maintained. People with G6PD Deficiency should not eat fava beans, nor be exposed to areas where fava beans grow. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1990. 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 Glucose-6-Phosphate Dehydrogenase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse P.O. 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 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, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1281-1282. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1052-1054. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 1119, 2455. THE SUITABILITY OF SALIVA FOR DETECTION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY. A. H. Beaumont et al.; MOL BIOL REP (1988: ISSUE 13 (2)). Pp. 73-78. CHRONIC NONSPHEROCYTIC HEMOLYTIC ANEMIA (CNSHA) AND GLUCOSE 6 PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY IN A PATIENT WITH FAMILIAL AMYLOIDOTIC POLYNEUROPATHY (FAP). MOLECULAR STUDY OF A NEW VARIANT (G6PD CLINIC) WITH MARKEDLY ACIDIC PH OPTIMUM. J.L. Vives-Corrons et al.; HUM GENET (January, 1989: issue 81 (2)). Pp. 161-164. TOLERABILITY OF TIAPROFENIC ACID IN PATIENTS WITH GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY. Q. Mela et al.; DRUGS (1988: issue 35 supplement 1). Pp. 107-110. DIVERSE POINT MUTATIONS IN THE HUMAN GLUCOSE-6-PHOSPHATE DEHYDROGENASE GENE CAUSE ENZYME DEFICIENCY AND MILD OR SEVERE HEMOLYTIC ANEMIA. T.J. Vulliamy et al.; PROC NATL ACAD SCI USA (July, 1988: issue 85 (14)). Pp. 5171-5175.