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1994-01-17
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$Unique_ID{BRK03759}
$Pretitle{}
$Title{Fructosuria}
$Subject{Fructosuria Levulosuria Hepatic Fructokinase Deficiency Essential
Fructosuria Diabetes, Insulin-Dependent}
$Volume{}
$Log{}
Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
573:
Fructosuria
** IMPORTANT **
It is possible that the main title of this article (Fructosuria) is not
the name you expected. Please check the SYNONYMS listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Levulosuria
Hepatic Fructokinase Deficiency
Essential Fructosuria
Information on the following disorder can be found in the Related
Disorders section of this report:
Diabetes, Insulin-Dependent
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.
Fructosuria is a very rare inherited metabolic disorder. It is
characterized by the excretion of fruit sugar (fructose) in the urine.
Normally, no fructose is excreted in the urine. This condition is caused by
a deficiency of the enzyme fructokinase in the liver. This enzyme is needed
for the synthesis of glycogen (the body's form of stored energy) from
fructose. The presence of fructose in the blood and urine may lead to an
incorrect diagnosis of Diabetes Mellitus.
Symptoms
Fructosuria is characterized by the presence of fructose in the urine. There
are no other symptoms. However, the fructose may be mistaken for glucose
(blood sugar) leading to an incorrect diagnosis of Diabetes Mellitus.
Causes
Fructosuria is a rare hereditary disorder transmitted by 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 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 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
Fructosuria affects about 1 out of every 130,000 persons in the United
States. It affects males and females in equal numbers.
Related Disorders
Comparison of the following disorder with Fructosuria may be useful for a
differential diagnosis:
Diabetes Mellitus is a common disorder in which the body does not produce
enough insulin and is, therefore, unable to convert nutrients into the energy
necessary for daily activity. The disorder affects females and males
approximately equally. Although the causes of Insulin-Dependent Diabetes are
not known, genetic factors seem to play a role. Symptoms of Diabetes
Mellitus can be very debilitating if left untreated, whereas Fructosuria does
not cause excessive thirst, weight loss or fatigue. (For more information,
choose "Diabetes" as your search term in the Rare Disease Database.)
Therapies: Standard
Diagnosis of Fructosuria is made by testing the urine for the presence of
fructose. Fructosuria does not require treatment as the symptoms are
harmless.
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 Fructosuria, 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) 468-6344
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For information on genetics and genetic counseling referrals, 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
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. P. 978.
ESSENTIAL FRUCTOSURIA, HEREDITARY FRUCTOSE INTOLERANCE, AND FRUCTOSE-1,6-
DIPHOSPHATASE DEFICIENCY: R. Gitzelmann, et al.; In: THE METABOLIC BASIS OF
INHERITED DISEASE, 5th ed.: John B. Stanbury, et al.; McGraw Hill, 1983.
Pp. 118-140.