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$Unique_ID{BRK04316}
$Pretitle{}
$Title{Von Gierke Disease}
$Subject{Von Gierke Disease Glycogen Storage Disease I Glycogenosis Type I
Hepatorenal Glycogenosis Glycogenosis Type IA Glucose-6-Phosphatase Deficiency
Glycogenosis Type IB Glucose-6-Phosphate Translocase Deficiency
Glucose-6-Phosphate Transport Defect Forbes Disease Andersen Disease Hers
Disease Glycogen Storage Disease VIII }
$Volume{}
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Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders,
Inc.

393:
Von Gierke Disease

** IMPORTANT **
It is possible the main title of the article (Von Gierke Disease) is not
the name you expected.  Please check the SYNONYMS listing on the next page to
find alternate names, disorder subdivisions, and related disorders covered by
this article.

Synonyms

     Glycogen Storage Disease I
     Glycogenosis Type I
     Hepatorenal Glycogenosis

DISORDER SUBDIVISIONS:

     Glycogenosis Type IA, also known as Glucose-6-Phosphatase Deficiency
     Glycogenosis Type IB, also known as Glucose-6-Phosphate Translocase
     Deficiency, and Glucose-6-Phosphate Transport Defect

Information on the following disorders can be found in the Related
Disorders section of this report:

     Forbes Disease
     Andersen Disease
     Hers Disease
     Glycogen Storage Disease VIII

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.


Von Gierke Disease is a glycogen storage disease.  This hereditary
metabolic disorder is caused by an inborn lack of the enzyme glucose-6-
phosphatase.  This enzyme is needed to convert the main carbohydrate storage
material (glycogen) into sugar (glucose) which the body uses for its energy
needs.  A deficiency causes deposits of excess glycogen in the liver and
kidney cells.

Symptoms

Symptoms of Von Gierke Disease usually begin during the first year of life.
The disorder is characterized by persistent hunger, fatigue and irritability.
These symptoms are especially noticeable in infants.  Other symptoms include
marked enlargement of the liver (hepatomegaly), weight loss and a slow growth
rate.  If food is withheld, a low blood sugar level (hypoglycemia) and an
abnormally high level of acetone, aceto-acetic acid and beta-hydroxybutyric
acid (also called ketones) may develop in the blood and body tissues.  This
is called ketosis.  If the hypoglycemia is severe, patients may experience
seizures.

Children with Von Gierke Disease may bruise easily and may experience
frequent nosebleeds.  An increased level of cholesterol and fatty acids in
the blood (lipidemia) may lead to yellow lipid deposits under the skin
(xanthoma) in the joint areas of the arms and legs.  Small spaces (vacuoles)
filled with the main carbohydrate storage material (glycogen) may be seen
microscopically in liver cells and throughout the kidneys.  An excess of uric
acid in the blood (hyperuricemia) may also occur.  The course of the disorder
can be severe at times.  However, the symptoms tend to improve gradually with
age.

Causes

Von Gierke Disease is inherited through autosomal recessive genes.  This
disorder is caused by a lack of the enzyme glucose-6-phosphatase.  A
deficiency causes excess amounts of glycogen to be stored in the body's
tissues.  (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 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

Von Gierke Disease and other glycogen storage disorders together affect about
1 in 40,000 persons in the United States.  It affects males and females in
equal numbers.

Related Disorders

Glycogen Storage Diseases are caused by inborn errors of metabolism in which
the balance between stored energy (glycogen) and available energy (sugar or
glucose) is disturbed.  Too much glycogen tends to be stored in the liver and
muscles and too little sugar is available in the blood.

The following diseases are similar to Von Gierke Disease.  Comparisons
may be useful for a differential diagnosis:

Forbes Disease (Glycogenosis III; Cori Disease) is another genetic
glycogen storage disease.  This disorder is caused by a lack of a debrancher
(dextrin-1-6-glucosidase) enzyme.  This enzyme deficiency causes excess
amounts of glycogen to be deposited in the liver and muscles.  The nerves in
the back of the legs and on the sides of the heel and foot (sural nerves)
also accumulate excess glycogen.  The heart may be involved in some cases.

Andersen Disease is a glycogen storage disease inherited through
recessive genes.  Symptoms of this disorder are caused by a lack of a
brancher enzyme amylo transglucosidase.  The lack of this enzyme causes an
abnormality in the structure of the main carbohydrate storage material
(glycogen).  Andersen Disease is characterized by scarring of the liver
(cirrhosis) which may lead to liver failure.

Hers Disease is a mild genetic form of glycogen storage disease.  The
disorder is caused by a deficiency of the enzyme liver phosphorylase.  Hers
Disease is characterized by enlargement of the liver (hepatomegaly),
moderately low blood sugar (hypoglycemia), elevated levels of acetone and
other ketone bodies in the blood (ketosis), and moderate growth retardation.
Symptoms are not always evident during childhood.  Children may be able to
lead normal lives.  In other cases, severe symptoms may be present.

Glycogen Storage Disease VIII is a sex-linked genetic disorder caused by
a deficiency of the enzyme liver phosphorylase kinase.  The disorder is
characterized by slightly low blood sugar (hypoglycemia).  Excess amounts of
glycogen (the stored form of energy that comes from carbohydrates) are
deposited in the liver, causing enlargement of the liver (hepatomegaly).

For more information on the above disorders, choose "Forbes," "Anderson,"
"Hers," and "Glycogen Storage Disease VIII" as your search terms in the Rare
Disease Database.

Therapies:  Standard

Diagnosis of Von Gierke Disease may be confirmed by tests that measure the
body's reaction to sugar when it is added to the blood stream (glucose test),
a test that measures the body's reaction to glucagon (glucagon tolerance
test).

Treatment of Von Gierke Disease is aimed at prevention of low blood sugar
(hypoglycemia) and ketosis through a carefully controlled diet.  Frequent
small servings of carbohydrates and a high protein diet during the day must
be maintained throughout life.  At night continuous tube feeding of food
solutions such as Vivonex may be administered to promote normal childhood
growth.  The uric acid concentration in the blood must be carefully monitored
to prevent gouty arthritis during adolescence or adulthood.  Allopurinol, a
drug capable of reducing the level of uric acid in the blood, may be useful
to control the symptoms of gout-like arthritis during the adolescent years.

Recently the use of cornstarch as an overnight feeding, one cup of
cornstarch before bed, has shown great promise.  Not only does this procedure
eliminate other forms of feeding throught the night, but it has improved
blood levels of glucose and lowered amino acid asnd phosphate loss.  It has
been documented that this treatment has shown an increased growth of some
patients and a decrease in damage to the kidney's proximal tubules.

Genetic counseling can be helpful for families of children with Von
Gierke Disease and other Glycogen Storage Diseases.  Although the disorder is
not curable it is treatable with appropriate medication, diet control and
monitoring to prevent complications.

Therapies:  Investigational

Dr. Yuan-Tsong Chen, M.D., Ph.D. of Duke University, Durham, NC, was awarded
a grant in 1988 by the Orphan Products Division for his work using cornstarch
as a treatment for Von Gierke Disease (Type I Glycogen Storage Disease).

Dr. Y.T. Chen at Duke University Medical Center, at the request of the
Glycogen Storage Disease Association, is collecting DNA from patients with
Glycogen Storage Disease Type I to form a DNA bank for GSDI.  Interested
patients may contact the Glycogen Storage Diseases Association for further
information.  The address and phone number of the organization are listed in
the Resources section of this report.

This disease entry is based upon medical information available through
May 1991.  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 Von Gierke Disease, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Association for Glycogen Storage Diseases
     Box 896
     Durant, IA  52747
     [phone]

     National Digestive Diseases Information Clearinghouse
     Box NDDIC
     Bethesda, MD  20892
     [phone]

     Research Trust for Metabolic Diseases in Children
     Golden Gates Lodge, Weston Rd.
     Crewe CW1 1XN, England
     Telephone:  [phone]

For information on genetics and genetic counseling referrals, please
contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

OPTIMAL RATE OF ENTERAL GLUCOSE ADMINISTRATION IN CHILDREN WITH GLYCOGEN
STORAGE DISEASE TYPE I:  W.F. Schwenk, et al.;  New England Journal of
Medicine (March 13, 1986:  issue 314,11).  Pp. 682-685.

GLYCOGEN STORAGE DISEASE TYPE I.  RESULTS OF TREATMENT WITH FREQUENT
DAYTIME FEEDING, COMBINED WITH NOCTURNAL INTRAGASTRIC FEEDING AND WITH
ADMINISTRATION OF AN ALPHA-GLUCOSIDASE INHIBITOR:  H. Grube, et al.;
European Journal of Pediatrics (April 1983:  issue 140,2).  Pp. 102-104.