Glycogen disease is a number of diseases in which glycogen accumulates in various organs and tissues of the body. It has long been established that the disease is hereditary. It is caused by the fact that the activity of the enzyme responsible for the metabolism of glycogen in the body is impaired. The disease parasitizes both in the female and male body, and, unfortunately, is incurable. However, if the necessary measures are taken in time to prevent symptoms, then a person can live a long time, almost without remembering the disease.
There are three types of disease: muscular, hepatic and generalized.
This article describes how glycogen disease is inherited.
What is glycogen?
Glycogen is, in fact, a certain supply of glucose in cells. It is a complex carbohydrate that enters the body with food. Interestingly, glycogen is mainly located in the liver, and when broken down, it provides absolutely the entire body with glucose.
To perform any action, a person needsthe energy that it receives just when glycogen is broken down. It can be concluded that this is one of the most important enzymes for the normal functioning of the body.
Reasons
Glycogen is a very important enzyme made up of individual glucose molecules. When it breaks down, glucose is distributed throughout the body. The main cause of glycogen liver disease is that glycogen storage sites lack the necessary enzymes to break it down. In this case, it turns out that the body receives enough glycogen, but there is not enough glucose for normal life. But despite the fact that this is the main factor, doctors still identify 12 more significant causes of glycogen diseases.
Almost always, the disease is born with the child. Some children do not produce enough glycogen and therefore become addicted to certain foods.
The most common type of glycogen disease is 3. Pathology is associated with the synthesis of improper glycogen.
Disease type 0
With glycogen disease (localization of the null gene type), there is a symptom of a coma, which is very dangerous for the life of not only a child, but also an adult. There is a loss of consciousness, a person stops responding to external stimuli, and there is also a violation of the temperature regulation of the body and an increase or slowdown in the heartbeat. If a coma has developed in a child at an early age,then his chances of survival are critically small. If his body manages to overcome this condition, then the child may remain mentally retarded, as well as physically lag behind in development.
Glycogenosis Type I
Shows up from childhood. Symptoms of glycogen disease in children lie in the fact that patients suffer from lack of appetite, frequent and rather strong vomiting. Shortness of breath is common with a persistent cough.
Due to the fact that glycogen is deposited in the liver, it increases significantly in size, which can be recognized by careful examination. Symptoms of hemorrhoids may develop, which means periodic bleeding from the anus. Also, in children, the size of the head increases, it looks disproportionate in relation to other parts of the body. If the child manages to survive, a person's physical retardation develops. The worst thing is that later the patient may develop liver cancer.
It is worth mentioning that the first type of glycogen disease and hypoglycemia are similar phenomena.
Second type
Glycogenosis of the second type has almost the same symptoms as the first type of the disease. This is a delay in mental and physical development, lethargy, partial loss of appetite. Over time, the spleen, kidneys, as well as the heart and liver increase in size. Due to the fact that the nervous system is affected, paralysis may occur. In addition, there is a deterioration in posture and the development of scoliosis. It should be noted that this type is not as life-threatening as the previous one, the patient lives toold age.
What is type III glycogenosis?
It has the same symptoms as the first type, however it does not cause cancer and the disease is relatively mild. After puberty, it is not so aggressive, only a decrease in muscle tone, exhaustion, weakness is noticed.
IV type of glycogenosis
It entails already more pronounced symptoms, of which: jaundice, ascites, that is, an increase in the abdomen, itching of the skin. From birth, glycogen is deposited in the liver, which can eventually lead to liver cirrhosis. Unfortunately, this type is fatal.
The fifth type. What is it?
This type of disease affects only the muscles, as undigested glycogen is deposited in the muscle tissue. Muscles increase in volume, the tissue structure becomes denser, but this does not make the muscles strong. This symptom leads to spasms and pain during physical exertion. Sweating increases, the risk of tachycardia increases.
It should be noted that type 5 glycogenosis is absolutely safe than other manifestations of the disease. A person is able to live a long time, while all his organs will function normally.
Glycogenosis type VI
Symptoms of this type, as in most cases, can be recognized from birth. An increase in head size, as well as weight loss, which is manifested due to lack of appetite. An increased content of fats in relation to other microelements is noticed in the blood.
Typeseventh
Symptoms are similar to those of other metabolic diseases. That is, it is a deficiency of the enzymes phosphoglycerate mutase, phosphoglycerate kinase, lactate dehydrogenase, beta-enolase. Diagnosis is by biopsy of muscle tissue. They also take a blood test. Patients are advised to avoid carbohydrate intake and increased physical activity.
Signs of type VIII glycogenosis
Here, the symptoms are already significantly different from all of the above. The patient has disorders of the nervous system, in which there is a violation of coordination of movements. You can also observe involuntary and erratic movements of the muscles of the arms, legs, face. Liver failure develops, the liver itself increases in size. Patients have no chance of survival, usually all die before reaching adolescence.
Glycoginosis type IX
The type of disease with the smallest spectrum of symptoms. Only liver failure is noted.
Type tenth
The most interesting thing is that this is the rarest type of glycogen disease. It was detected only once in the history of medicine. Accompanied by muscle pain. As with other types, there was an increase in liver size.
XI type disease
More or less safe type of the entire group of diseases. There is an increase in the size of the liver. A slight slowdown in growth, and with age, the development of rickets is possible. However, when a person reaches the age of puberty, the disease ceases to progress so actively,the patient is starting to get better.
The biochemistry of glycogen disease indicates that it requires regular monitoring by both the small patient and parents, and the doctor.
Treatment
Glycogen disease is a genetic disease that is inherited, and therefore, as in most cases, it is practically incurable. But it should be noted that with the observance of the necessary measures, you can lead quite a normal life activity. Of course, this does not apply to glycogenosis types one, four and eight, because in these cases the person dies before reaching middle age.
To prevent metabolic processes in the body, doctors prescribe special diet therapies to patients, following which, you can stop the progress of the disease. To begin with, the doctor examines all the biochemical and metabolic processes of the patient, and then prescribes the diet that will maintain the required level of glucose in the blood. These diets tend to be dominated by proteins and carbohydrates, while fats are kept to a minimum.
For children, to make it convenient to replenish their energy supply in the middle of the night without constant feeding, corn starch is great. In water, you need to dilute approximately one to two, such a supply of starch will help to completely abandon the night feeding of the child, because the dose of starch is enough for about six to eight hours.
If it is not possible to maintain a favorable condition of the child with such diets, then you will have to resort to more unpleasant procedures, such as the introduction of a mixture enrichedm altodexin.
In the first type of disease, the intake of galactose and fructose is usually limited, sucrose is limited in third-degree glycogenosis. These are usually dairy products, a large number of fruits and berries, raisins, dried apricots, various syrups and refined sugar.
But unfortunately, in some cases, certain diets can be sorely lacking, then you have to feed the body intravenously in stationary conditions. There is also feeding through a nasogastric tube.
In the case of glycogenosis of the second type, everything is much more complicated. Patients are prescribed specialized therapy with the participation of the necessary enzymes. The drug "Meozim" once every two weeks is administered to the patient at twenty milligrams. Meozyme is a human-made glucosidase enzyme.
However, the complexity of this procedure lies in the fact that this drug is banned in a number of countries. It is really used in medicine only in the USA, some European countries and Japan. You need to understand that drug treatment should be started as early as possible, because the effect will be much stronger.
Other medicines are also used, among them "Alopurinol" or nicotinic acid. In addition, drugs are used that compensate for the amount of calcium and vitamins B and D in the body.
If the disease parasitizes only in one muscle, the patient is prescribed a daily intake of fructose, 50-100 grams is enough. Suchprocedures compensate for the lack of vitamins necessary for the body.
In addition to treatment with various drugs, doctors also use surgery. This can be a liver transplant, that is, a transplant from a donor to a patient, either part or all of the liver. You need to know that the operation is performed only with glycogenosis of the first, third and fourth types, so it is always necessary to determine the type of disease very accurately in order to avoid unnecessary costs. If the operation is performed with glycogenosis of the third type, this means that the patient's own liver is almost impossible to save.
Sometimes patients may be injected with drugs such as glucagon or anabolic hormones.
