DEFINITION
Glycogen Accumulation disease (Glycogen Storage Disease) is
a disease caused by abnormal enzyme that plays a role in glycogen metabolism,
causing a variety of disorders, such as stunted growth, weakness, and
confusion.
Glycogen is made by many glucose molecules that are
interconnected. Glucose is the body's main energy source for the muscles
(including the heart muscle) and brain. Glucose that is not immediately used
for energy are stored as reserves in the liver, muscles, and kidneys in the
form of glycogen and released into the body if necessary.
There are different types of glycogen accumulation disease,
namely:
Type Ia (von Gierke's disease), Type Ib, Type Ic, Type Id
Type II (Pompe disease)
Type III (disease Forbes-Cori)
Type IV (Andersen's disease)
Type V (McArdle's disease)
Type VI (Hers disease)
Type VII (Tarui's disease)
Type IX (liver phosphorylase kinase deficiency)
Type XI (Fanconi-Bickel Syndrome)
These diseases are caused by the lack of one of the enzymes
that are essential for the process of the formation of glucose into glycogen
and breakdown of glycogen into glucose. This disease is lowered. About one in
20,000 babies born have some form of glycogen accumulation disease.
CAUSE
Glycogen accumulation disease is an inherited disease, and
is autosomal recessive.
A person can be carriers of disease glycogen accumulation.
The person is healthy, but carry the gene in question. Someone with glycogen
accumulation disease have both parents carry the gene in question. If both
parents are career, then the chances of every child to be exposed to this
disease is 1: 4.
In some types of glycogen accumulation disease, such as
disease type VI and some disease type IX, has a different genetic pattern of
inheritance, which is associated with the X chromosome
In this pattern, can be a career woman, namely by bringing a
problematic gene on one X chromosome, but the adverse effects of these genes
could be covered by other normal X chromosome so there is no abnormality. While
men (who have only one X chromosome and one Y chromosome) would be exposed to
the disease if it has a problem gene on their X chromosome.
SYMPTOMS
Some types of this disease only causes few symptoms. But
other types of diseases that can be fatal. The severity of the disease, symptoms,
and the age when symptoms appear varies in each type.
For disease type II, V, and VII, the main symptoms that
occur usually in the form of weakness. For type I, III, and VI, the symptoms
were found to lower blood sugar levels and distention (due to enlarged liver
due to excessive glycogen). Low blood sugar levels cause the patient to be
weak, sweating, confusion, and sometimes seizures, and even coma. Other
consequences that can occur in children is a bottleneck in the growth, frequent
infections, and the appearance of lesions in the mouth and digestive tract.
Glycogen accumulation disease tends to cause the
accumulation of uric acid in the joints, which can lead to gout, and the
kidneys, which can cause kidney stones. Kidney failure often occurs in glycogen
accumulation disease type I, which is in the second decade of life or later.
DIAGNOSIS
Glycogen accumulation disease can be passed down in the
family. Thus there may be a history of the disease in the family.
Several tests that can be done include:
Laboratory tests, among others, to see the presence of
myoglobin in the urine, and blood tests, for example, to see the level of
glucose in the blood, liver function and kidney function
Ultrasound examination, for example, to see whether there is
an enlarged liver or heart problems.
Biopsy of the muscle or liver tissue, can be done to see the
accumulation of glycogen and fat in tissue, as well as measure the levels of
enzymes.
TREATMENT
Handling glycogen accumulation disease varies, depending on
disturbance. Most treatments aim to keep blood sugar levels remain normal. This
can be done by providing additional glucose by injection into a vein or through
a tube that is placed from the nose into the stomach. If the provision of
additional nutrients not successful, then it may be necessary liver transplant.
Patients who have disorders of the immune system should receive regular
treatment to prevent infection.
In some types of glycogen accumulation disease, various
trials have been successfully using enzyme replacement therapy for enzyme
deficiency (less) or not can not work normally. For example in Pompe disease,
this treatment can help restore cardiac disorders and muscle weakness occurs.
Myoglobin levels also need to be reduced by limiting
physical activity. Drink plenty of fluids, especially after physical exercise,
can help to dissolve myoglobin.
REFERENCE
- Lee M Sanders. Disorders of Carbohydrate Metabolism. Merck
Manual. 2009.
- Tim Kenny. Glycogen Storage Disorders. 2011.
www.patient.co.uk
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