What is Glycogen Storage Disease (GSD) ?
Glycogen Storage Disease (GSD)
encompasses various metabolic disorders that affect glycogen
metabolism. Patients affected with GSD lack or are deficient in
enzymes responsible for the conversion of glycogen into glucose.
Glucose serves as the primary energy source in the body. It is
stored as glycogen, a complex chain of molecules. Glycogen is
stored mainly in the liver and muscle cells and is converted into
glucose through a series of enzymatic reactions as needed by the
body. Various types of GSD are differentiated by the enzyme
involved. They are either classified by number, defective enzyme
or the individual who first described the condition. There are
currently eleven known types of GSD.
Symptoms present in GSD include an enlarged liver, low blood
sugar, growth retardation, and an abnormal blood chemistry. Each
type of GSD also has its own specific symptoms. Definitive
diagnosis can only be made through a biopsy of the affected organ.
A primary treatment for individuals with GSD is a well-controlled
diet that ensures consistent levels of blood glucose. Symptoms, if
properly treated, may subside by the time the patient reaches
adulthood. In severe cases, an organ transplant may be the only
option for the patient.
Because GSD is an inherited condition, it is not
preventable. If both parents carry the defective gene, there is a
one-in-four chance that their offspring will inherit the disorder.
Other children may be carriers or they may miss inheriting the
gene altogether.
what symptoms
present?
The symptoms of a glycogen
storage disease depend on its type. The following is a list of
common glycogen storage disease symptoms:
Low blood sugar
Enlarged liver
Slow growth
Muscle cramps
Glycogen Storage Disease Diagnosis
Glycogen storage disease is usually diagnosed in infancy or
childhood as a result of the above symptoms. If your child's
doctor suspects a glycogen storage diseases, he or she will ask
about your child's symptoms and medical history, then perform a
physical exam. The doctor will perform tests to rule out or
confirm the diagnosis. These tests may include:
Biopsy of the affected organs
Blood and urine samples
MRI scan – a test that uses magnetic waves to make pictures of the
inside of the body
Glycogen Storage Disease Treatment
Treatment will depend on the type of glycogen storage disease and
the symptoms. The following general treatment guidelines apply to
people who have glycogen storage diseases that affect the liver,
or types I, III, IV, and VI. Your child's doctor will develop a
treatment regimen based on your child's specific symptoms.
The goal of treatment is to maintain normal blood glucose levels.
This may be done with:
A nasogastric infusion of glucose in infants and children under
age two
Dietary changes, including:
In children over age two, frequent small carbohydrate feedings are
given throughout the day. This may include uncooked cornstarch.
(Uncooked cornstarch provides a steady slow-release form of
glucose.)
Elimination of foods that are high in fructose or lactose (type I
only)
Allopurinol (Aloprim, Zyloprim) may be prescribed to reduce uric
acid levels in the blood. This is done to prevent gout and kidney
stones.
Type IV is sometimes treated with liver transplantation.
This next group of treatment guidelines applies to people who have
glycogen storage diseases that affect the muscles, or types V and
VII. Your child's doctor will develop a treatment regimen based on
your child's specific symptoms.
The goal of treatment is to avoid muscle
fatigue and/or cramps induced by exercise. This is done by:
1)Regulating or limiting strenuous exercise to avoid fatigue
symptoms
Improving exercise tolerance by oral intake of glucose or fructose
(fructose must be avoided in people with type I), or an injection
of glucagon
2)Eating a high protein diet
3)There is no way to prevent glycogen storage diseases. However,
early treatment can help control the disease once a person has it.
If you have a glycogen storage disease or a family history of the
disorder, you can talk to a genetic counselor when deciding to
have children.
Patients affected with GSD lack or are deficient in
enzymes
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