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$Unique_ID{BRK03774}
$Pretitle{}
$Title{Glucose-Galactose Malabsorption}
$Subject{Glucose-Galactose Malabsorption Carbohydrate Intolerance Complex
Carbohydrate Intolerance Irritable Bowel Syndrome Lactose Intolerance Crohn's
Disease Galactosemia}
$Volume{}
$Log{}
Copyright (C) 1990 National Organization for Rare Disorders, Inc.
749:
Glucose-Galactose Malabsorption
** IMPORTANT **
It is possible that the main title of the article (Glucose-Galactose
Malabsorption) is not the name you expected. Please check the SYNONYM
listing to find the alternate names and disorder subdivisions covered by this
article.
Synonyms
Carbohydrate Intolerance
Complex Carbohydrate Intolerance
Information on the following diseases can be found in the Related
Disorders section of this report:
Irritable Bowel Syndrome
Lactose Intolerance
Crohn's Disease
Galactosemia
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-Galactose Malabsorption (carbohydrate intolerance) is a genetic
disorder characterized by the small intestine's inability to transport and
absorb glucose and galactose (sugars which can be broken down no further, or
monosaccharides). Glucose and galactose have almost identical chemical
structures, and normally the same transport enzyme provides them with entry
into specialized cells in the small intestine where they are absorbed and
transferred to other cells. At the present time, this transport enzyme has
not been identified. However it is known to be defective in individuals with
glucose-galactose malabsorption.
The glucose and galactose which have not been absorbed through the
specialized cells of the small intestine are then poorly absorbed much
further along in the intestine. This abnormal absorption may interfere with
other intestinal absorption processes.
Symptoms
Symptoms of glucose-galactose malabsorption in children may include diarrhea,
dehydration and failure to gain weight. There may also be sugar in the stool
after eating any dietary carbohydrate, as all carbohydrates contain either
glucose or galactose. There is usually no rise in blood sugar after eating.
If untreated, a child may eventually show severe malnutrition or dehydration.
In adults, symptoms of glucose-galactose malabsorption may include
bloating, nausea, diarrhea, abdominal cramps, rumbling sounds caused by gas
in the intestine (borborygmi) and excessive urination.
Causes
Glucose-galactose malabsorption is inherited as an autosomal recessive trait.
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. In recessive disorders, the condition does not appear unless a
person inherits the same defective gene for the same trait 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
Glucose-galactose malabsorption is an extremely rare disorder. There are no
statistics available on whether it affects males or females more frequently,
nor whether certain ethnic groups are affected more often than others.
Related Disorders
Symptoms of the following disorders can be similar to those of glucose-
galactose malabsorption. Comparisons may be useful for a differential
diagnosis:
Irritable Bowel Syndrome, also called spastic colon, is a disorder
involving the muscles of the small intestine, which fail to ingest food at
the proper rate. Overly rapid ingestion of food results in diarrhea, and
slow ingestion results in constipation. Symptoms include abdominal pain,
erratic bowel movements, variation in stool consistency, bloating,
flatulence, nausea, headache, fatigue, depression, anxiety and difficulty
concentrating. (For more information on this disorder, choose "Irritable
Bowel Syndrome" as your search term in the Rare Disease Database).
Lactose Intolerance is a disorder characterized by a lack of the enzyme
lactase which normally breaks down the sugar in milk known as lactose, into
simpler sugars. The unabsorbed lactose remains in the intestine, causing
symptoms of diarrhea, bloating, cramping pain, nausea and flatulence. People
with this disorder must avoid milk and milk products, but can eat other
carbohydrates. (For more information on this disorder, choose "Lactose
Intolerance" as your search term in the Rare Disease Database).
Crohn's Disease is a chronic inflammatory disorder which affects the
large intestine. Symptoms may include chronic diarrhea, abdominal pain,
fever and weight loss. (For more information on this disorder, choose
"Crohn's Disease" as your search term in the Rare Disease Database).
Galactosemia is an inherited disorder involving the conversion of
galactose to glucose. Symptoms in children may include vomiting, lack of
appetite, jaundice and neurological problems. (For more information on this
disorder, choose "Galactosemia" as your search term in the Rare Disease
Database).
Therapies: Standard
Treatment of glucose-galactose malabsorption requires the elimination of all
dietary carbohydrates, including milk and milk products which contain the
sugar lactose. Lactose is broken down further into glucose and galactose.
Fructose, which is a sugar absorbed differently than either glucose or
galactose, may be substituted as a source of carbohydrate calories. Some
patients will tolerate the sugar sucrose since it is partially composed of
the easily absorbed fructose.
Therapies: Investigational
This disease entry is based upon medical information available through
January 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-Galactose Malabsorption, 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 NDIC
Bethesda, MD 20892
(301) 468-2162
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. 957.
THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et
al., eds.; McGraw Hill, 1983. Pp. 1729-1740.
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown
and Co., 1987. Pp. 140, 880.
THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief;
Merck Sharp & Dohme Laboratories, 1982. Pp. 796-797.
GLUCOSE-GALACTOSE MALABSORPTION: DEMONSTRATION OF SPECIFIC JEJUNAL BRUSH
MEMBRANE DEFECT. I.W. Booth et al.; GUT (December, 1988; issue 29(12): Pp.
1661-1665.)
COMPLEX CARBOHYDRATE INTOLERANCE: DIAGNOSTIC PITFALLS AND APPROACH TO
MANAGEMENT. J.D. Loyd-Still et al.; J PEDIATR (May, 1988: issue 112(5): Pp.
709-713.)