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$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.