$Unique_ID{BRK04243} $Pretitle{} $Title{Sucrose-Isomaltose Malabsorption, Congenital} $Subject{Sucrose-Isomaltose Malabsorption, Congenital Disaccharide Intolerance I Sucrase-alpha-Dextrinase Deficiency, Congenital Sucrase-Isomaltase Deficiency, Congenital Sucrose Intolerance, Congenital Lactose Intolerance (Disaccharide Intolerance II; Lactase Deficiency, Congenital) } $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 626: Sucrose-Isomaltose Malabsorption, Congenital ** IMPORTANT ** It is possible that the main title of this article (Congenital Sucrose- Isomaltose Malabsorption) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Disaccharide Intolerance I Sucrase-alpha-Dextrinase Deficiency, Congenital Sucrase-Isomaltase Deficiency, Congenital Sucrose Intolerance, Congenital Information on the following disorder can be found in the Related Disorders section of this report: Lactose Intolerance (Disaccharide Intolerance II; Lactase Deficiency, Congenital) 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 physician and/or the agencies listed in the "Resources" section of this report. Congenital Sucrose-Isomaltose Malabsorption is a genetic metabolic disorder characterized by an inborn deficiency of the enzyme sucrase- isomaltase. This deficiency causes diarrhea if table sugar (sucrose) or certain other carbohydrates are eaten. Symptoms Congenital Sucrose-Isomaltose Malabsorption is characterized primarily by diarrhea. Children with this disorder may be unable to gain weight on a normal diet. Adults may experience abdominal cramps and bloating, and excessive gas (flatus) when sugar or other carbohydrates are eaten. Diarrhea may be severe enough to purge other nutrients before they can be absorbed. Causes Congenital Sucrose-Isomaltose Malabsorption is a hereditary disorder transmitted through autosomal recessive genes. (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 for the same trait from each parent. If a person receives one normal gene and one gene for the disease, he or she 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 25 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 Congenital Sucrose-Isomaltose Malabsorption is a rare disorder affecting children from birth. Males and females are found to have this disorder in equal numbers. Some patients may be only mildly affected while others may have a moderate to severe form of the disorder. Related Disorders Symptoms of the following disorder can resemble those of Congenital Sucrose- Isomaltose Malabsorption. Comparisons may be useful for a differential diagnosis: Lactose Intolerance (Disaccharide Intolerance II; Lactase Deficiency). Malabsorption syndromes result from impaired absorption of nutrients from the small bowel. Lactose Intolerance is characterized by diarrhea and abdominal distention. A lack of the lactase enzyme results in an inability to digest lactose which is a type of sugar found in milk. Avoiding milk products makes it possible for patients with Lactose Intolerance to lead normal lives, although the disorder may get worse with age. (For more information, choose "Lactose" as your search term in the Rare Disease Database.) Therapies: Standard Congenital Sucrose Isomaltose Malabsorption is treated by administering the sucrase-isomaltase enzyme derived from a type of yeast. A carefully controlled diet should avoid sucrose and sucrose containing foods. Therapies: Investigational This disease entry is based upon medical information available through December 1988. 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 Congenital Sucrose-Isomaltose Absorption, 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 Box NDDIC Bethesda, MD 20892 (301) 468-6345 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, 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 ENZYME-SUBSTITUTION THERAPY WITH THE YEAST SACCHAROMYCES CEREVISIAE IN CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY: H.K. Harms, et al.; New England Journal Med (May 21, 1987: issue 316(21)). Pp. 1306-1309. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1731-1733.