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$Unique_ID{BRK03456}
$Pretitle{}
$Title{Andersen Disease}
$Subject{Andersen Disease Amylopectinosis Andersen Glycogenosis Brancher
Deficiency Glycogen Storage Disease IV Glycogenosis Type IV Von Gierke Disease
Forbes Disease Hers Disease Glycogen Storage Disease VIII}
$Volume{}
$Log{}
Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders,
Inc.
394:
Andersen Disease
** IMPORTANT **
It is possible the main title of the article (Andersen 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
Amylopectinosis
Andersen Glycogenosis
Brancher Deficiency
Glycogen Storage Disease IV
Glycogenosis Type IV
Information on the following diseases can be found in the Related
Disorders section of this report:
Von Gierke Disease
Forbes 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.
Andersen Disease is a glycogen storage disease inherited through
recessive genes. Symptoms of this disorder are caused by a lack of a
brancher enzyme. Alpha-1, 4-glucan 6-glucosyltransferase is abnormal in the
liver, skin, fibroblasts, and other tissue. 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.
Symptoms
A baby with Andersen Disease appears to be normal at birth. The first
symptom usually is a failure to thrive. The baby's rate of growth and mental
progress stops at a certain point. There is little weight gain and a lack of
muscle tone, but the liver and spleen continue to enlarge. The course of
Andersen Disease is marked by progressive cirrhosis of the liver,
accumulation of fluid in body tissues (edema), and sometimes an accumulation
of fluid in the abdominal cavity (ascites). Findings of abnormal glycogen in
nerve tissue suggests that the nervous system may also be involved.
Causes
Andersen Disease is inherited through recessive genes. A deficiency of the
brancher enzyme causes a structural abnormality in glycogen. Progressive
scarring (cirrhosis) and enlargement of the liver and spleen may occur as a
result. (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
All Glycogen Storage Diseases together affect less than 1 in 40,000 persons
in the United States. Andersen Disease usually begins during infancy. 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. Too little sugar is available in the blood.
The following diseases are similar to Andersen Disease. Comparisons may
be useful for a differential diagnosis:
Von Gierke Disease is a glycogen storage disease. This hereditary
metabolic disorder is caused by an inborn lack of either the enzyme glucose-
6-phosphatase or the enzyme glucose-6-phosphate translocase. These enzymes
are needed to convert the main carbohydrate storage material (glycogen) into
sugar (glucose) which the body uses for its energy needs. A deficiency of
these enzymes causes deposits of excess glycogen in the liver and kidney
cells.
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.
Hers Disease (Hepatophosphorylase Deficiency Glycogenosis) 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 "Von Gierke,"
"Forbes," "Hers," and "Glycogen Storage Disease VIII" as your search terms in
the Rare Disease Database.
Therapies: Standard
Prenatal diagnosis is possible for Andersen Disease. Genetic counseling may
be helpful to families of children with this disorder.
Treatment of the disorder is aimed at treating the liver cirrhosis and
associated problems. It consists of a low protein diet and salt restriction
if swelling (edema) occurs or fluid accumulates in the abdomen (ascites).
Further treatment of Andersen Disease is symptomatic and supportive.
Therapies: Investigational
Liver transplantation has been used experimentally as an intervention for
Andersen Disease. More research is needed before this procedure can be
recommended as a useful therapy.
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
February 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 Anderson Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Association for Glycogen Storage Diseases
Box 896
Durant, IA 52747
(319) 785-6038
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 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
LIVER-SPLEEN SCINTIGRAPHY IN GLYCOGEN STORAGE DISEASE (GLYCOGENOSES): S.
Heyman; Clinical Nuclear Medicine (December 1985: issue 10,12). Pp. 839-
843.
A JUVENILE VARIANT OF GLYCOGENOSIS IV (ANDERSEN DISEASE): A.S. Guerra,
et al.; European Journal of Pediatrics (August 1986: issue 145,3). Pp. 179-
181.
NERVOUS SYSTEM INVOLVEMENT IN TYPE IV GLYCOGENOSIS: K.R. McMaster, et
al.; Archives of Pathol Lab Med (March 1979: issue 103,3). Pp. 105-111.
LIVER TRANSPLANTATION FOR TYPE IV GLYCOGEN STORAGE DISEASE, R. Selby, MD,
et al.; N Eng J Med., (January 3, 1991, issue 324 (1)). Pp. 39-42.