30 April

Glycogen storage disease - Causes, Symptoms , Treatments

Contents:

1. reasons

2. Symptoms glycogen and aglikogenozov

3. forms glycogen

4. Treatment of glycogen storage disease and aglikogenozov

glycogen -a group of hereditary diseases, which are characterized by the absence of one or more of the enzymes responsible for the conversion of sugar entering the body into glycogen or glycogen back into glucose, which is the source of energy for the human body.

for glycogen storage disease characterized by the accumulation in the body tissues of excess amounts of glycogen in tissues or the appearance of abnormal glycogen species.

Aglikogenoz - a disease associated with a deficiency of glycogen.Low levels of glycogen leads to the development of seizures in patients, as well as the backlog of children's mental and physical development.

glycogen and aglikogenozy occur with a frequency of one case of 40-70 thousand people.

reasons

glycogen and aglikogenozy caused by genetic malfunction that results in a deficiency of a particular enzyme invo

lved in glucose metabolism in the human body.As a rule, the disease is transmitted in an autosomal recessive manner, it is possible inheritance of the disease by sex.

Symptoms glycogen and aglikogenozov

Symptoms of glycogen storage disease and their severity, and the age at which the disease is first declared itself, it depends on which of the enzymes involved in the metabolism of glucose is absent.

glycogenoses most often occur in the first months of life.They are characterized by the following symptoms:

- hepatosplenomegaly (enlargement of the spleen and liver);

- lack of appetite;

- muscle hypotonia;

- delayed physical development;

- a disorder of respiratory function;

- increase in heart size, entailing myocardial hypertrophy and disruption of cardiac conduction;

- fatigue;

It is also the development of neurological symptoms and nefromegalii (an abnormal increase in the kidneys).

glycogenoses often accompanied by accumulation in the body of metabolic products.Since the increase in the concentration of uric acid in the blood can cause gout development, and promote the formation of kidney stones.Thus, patients in need of medical treatment aimed at preventing the accumulation of uric acid.

In some cases, children suffering from glycogen storage disease, it is necessary to limit physical activity to reduce the frequency and intensity of muscle cramps.

For aglikogenoza characterized by convulsions that occur with patients mainly in the morning or after prolonged fasting.The fact that the sharp hypoglycemia aglikogenoza characteristic leads to the fact that blood glucose levels drop too low, which leads to the occurrence of seizures.To prevent hypoglycemic seizures frequently recommended feeding patients, including night.Unfortunately, the prognosis is unfavorable aglikogenoza.

forms glycogen

According to clinical manifestations there are three main forms of glycogen storage disease:

- liver;

- muscle;

- generalized.

Signs of hepatic glycogen forms appear in the first year of life.Typically, the first symptoms of the disease appear on the 8-9 month of life in the form of rare episodes of hypoglycemia.They are characterized by the presence of spasms of the limbs and temporary loss of consciousness.Seizures occur in the morning or between meals when the time interval is increased, and can be prevented by receiving the sweet water.

liver Histochemical studies show a significant growth of connective collagen tissue, an increased amount of lipids in the liver glycogen-rich cells.

child with hepatic form of the disease has a characteristic appearance of "doll face" big belly (due to enlarged liver), thin limbs, small stature.Various infectious diseases can complicate the course of this form of glycogen storage disease.The most dangerous age is considered the first 5 years of life.Then, the patient developed compensatory mechanisms for the exchange, and the child's condition improves.Typically, the disease does not affect the mental development.

to form muscle glycogen storage disease characterized by the appearance of the first symptoms of the disease at a later age - about 7-10 years.Children become inactive, complain of fatigue during exercise.There are pain in working muscles, developed shortness of breath and heart palpitations.With muscle weakness progresses over time.These symptoms develop along with the growth of the patient up to 25-35 years.

Histochemical study reveals a significant degeneration of muscle fibers containing vacuoles filled with glycogen.Possible necrosis of muscle fibers.

Symptoms of kidney damage and liver missing.The appearance of the patient does not change.Overall favorable prognosis.However, there are cases of deaths under the age of 30 years.

Clinical manifestations of generalized glycogenosis differ from the above forms of the disease.They are more diverse and characterized by progressive course.A large number of glycogen accumulate in virtually all organs and tissues of the body.

Treatment of glycogen storage disease and aglikogenozov

Spent treatment depends primarily on the type of glycogen storage disease, but its main purpose is to prevent hypoglycemia.

To avoid reducing the level of sugar in the blood of patients glycogen appoint a special protein-rich diet, and eating at intervals not to exceed 4 hours.This type of diet helps to prevent hypoglycemia and ketoacidosis before a meal, at the same time reducing the acidosis and hyperglycemia occurring after a meal.In addition, the diet helps to speed up the growth of children.Also, young patients may designate starch every 4-6 hours during the day.In severe cases of glycogen storage disease may need to be administered to the patient carbohydrate solutions overnight.For these purposes, a special tube may be withdrawn from the patient's stomach.

If muscular form protein diet can be assigned to the patient glycogen storage disease, multivitamin, fructose, and adenosine triphosphate.In addition, can be administered anabolic hormones, glucagon and glucocorticoids.Efficiency is enzyme therapy, which has a deficit in the body.

Attention!

This article is available exclusively in the educational purposes and is not research material or professional medical advice.

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