Treatment of glycogenases

The main goal of the treatment of glycogenoses is the prevention of hypoglycemia and secondary metabolic disorders.

Non-drug treatment of glycogenoses

Glycogenosis type I

Initially, treatment recommendations included only frequent feedings with a high carbohydrate content, but this did not always allow for a normal glucose level during the day. Therefore, young children with severe hypoglycemia, in addition to frequent daytime feeding, are shown night feeding through the nasogastric tube, which ensures a normal level of glucose in the blood, as well as a full night's sleep to patients and their parents. Through the nasogastric tube, glucose and solutions of glucose polymers are injected or a special formula of the mixture (without sucrose and lactose) enriched with maltodextrin is used. Feeding through the probe should be started 1 hour after the last evening meal. In some cases, patients with type 1 glycogenesis feed through a gastrostomy. Patients with lb type are contraindicated in establishing gastrostomy due to a high risk of infection. All patients are prescribed a diet high in carbohydrates: carbohydrates - 65-70%, proteins - 10-15%, fats - 20-25%, frequent feeding. To increase the interval between meals, raw cornstarch is used. Since the activity of pancreatic amylase in children younger than 1 year is not enough, starch should be prescribed at an older age. The initial dose is 0.25 g / kg; it should be increased slowly to prevent side effects from the gastrointestinal tract. Corn starch is mixed with water in a ratio of 1: 2. If it is used for night feeding, glucose should not be added to prevent the release of insulin. To determine the frequency of the introduction of cornstarch, daily monitoring of blood glucose levels should be carried out against the background of its application. Most patients use starch to maintain a normal glucose level within 6-8 hours. Excess glucose can lead to unwanted hyperglycemia, which makes patients more sensitive to hypoglycemia and increases the rate of fat deposition. During intercurrent infections, it is necessary to monitor the glucose level and its intake, although this presents certain difficulties due to possible nausea, refusal to eat and diarrhea. With an increase in body temperature, glucose is metabolized faster, so some additional feeding should be replaced with solutions of glucose polymers. In acute cases, 24-hour continuous feeding through the nasogastric tube and hospitalization in the clinic for infusion therapy are necessary. The answer to the question of the complete exclusion of fruit (as a source of fructose) and dairy products (a source of galactose) is ambiguous, as these products are an important source of calcium, protein and vitamins. It is believed that it is desirable to significantly limit their intake, but not completely exclude from the diet. In urgent surgical intervention, it is necessary to normalize the clotting time by constant feeding through the probe for several days or by infusion therapy with glucose solutions for 24-48 hours. It is necessary to monitor the level of glucose and lactate during the operation.

Glycogenosis type III

The main task in dietotherapy is the prevention of hypoglycemia and the correction of hyperlipidemia. Diet therapy is similar to that of glycogenase 1a, but since the tendency to hypoglycemia is less pronounced, in most cases, corn starch is sufficient to maintain a normal glucose level during the night. With type III glycogenesis, unlike glycogenase type I, there is no need to limit fructose and lactose, since their metabolism is not disturbed. Hepatomegaly with liver dysfunction and biochemical abnormalities found in all patients in childhood tend to disappear in the post-pubertal period. However, in some patients, cirrhosis may develop. Approximately 25% of these patients develop liver adenoma.

Glycogenosis type IV

In the appointment of a diet, patients with type IV glycogenesis do not need.

Glycogenosis of type VI

Treatment is symptomatic and consists in preventing hypoglycemia. Assign a high-carbohydrate diet.

Glycogenosis IX type

Treatment is symptomatic and consists in preventing hypoglycemia. Assign a high-carbohydrate diet and frequent feeding in the afternoon, at an early age also recommend late and night feeding. The prognosis for hepatic forms of type IX glycogenosis is favorable.

Glycogenosis of type

Treatment is symptomatic and consists in preventing hypoglycemia. Assign a diet high in carbohydrates, frequent feedings and children have late night feeding. Although in most patients the intellect does not suffer, in connection with frequent periods of hypoglycemia, developmental delay can be observed. Tolerance to starvation increases with age.

Glycogenosis of type V

Specific treatment is not developed. Saccharosis improves the tolerance of exercise and can provide a preventive effect if used before the planned load. Sucrose rapidly passes into glucose and fructose, both compounds pass the biochemical block in their metabolism and improve glycolysis.

Type VII glycogen

Specific methods of treatment are not developed. Unlike glycogenesis of type V, with glycogenesis of type VII, it is necessary to limit the intake of sucrose. Patients with this disease are less likely to suffer physical stress after eating high carbohydrates, which is due to the fact that glucose reduces the level of free fatty acids and ketone bodies, an alternative source of energy for muscle tissue.

Medication

Glycogenosis type I

Assign calcium and vitamin D. Calcium metabolism increase must be maintained due to adequate intake of vitamin B1. To prevent urate nephropathy and gout, allopurinol is prescribed, ensuring that the uric acid concentration does not exceed 6.4 mg / dL. If a patient is observed microalbuminuria, angiotensin-converting enzyme inhibitors are necessary to prevent renal dysfunction. To reduce the risk of developing pancreatitis and the formation of gallstones in a gallbladder with severe hypertriglyceridemia, drugs that lower the level of triglycerides (nicotinic acid) are indicated. Patients with lb with severe neutropenia are given a granulocyte colony-stimulating factor: lenograstim (granocite 34), filgrastim (neupogen). Patients usually respond well to treatment with small doses (initial dose of 2.5 mg / kg every other day). Against the background of taking the drug, the size of the spleen sometimes increases. A cytogenetic study of the bone marrow is necessary before the treatment and 1 year after the administration of the drug. The forecast is favorable in most cases.

Glycogenosis type II

Currently, the methods of treatment of the disease are being developed. The most promising of these is the enzyme replacement therapy. The drug to many (Myozyme, Genzyme) is a recombinant human enzyme alpha-glycosidase. The drug is registered in many countries of Europe, USA and Japan. Recently, several clinical studies have been conducted, in which patients with infantile form of the disease participated. These studies have shown that enzyme replacement therapy can reduce cardiomegaly, improve the function of the heart and skeletal muscles and prolong the life of the child. In this case, the earlier treatment is started, the more effective it is. Myozymum is prescribed in a dose of 20 mg / kg every 2 weeks, continuously, continuously.

Surgery

In cases of poor correction of metabolic disorders, dietary therapy for type I glycogenosis shows liver transplantation.

Liver transplantation with type III glycogenesis is carried out only in case of irreversible liver changes. The prognosis is usually favorable for the hepatic form, but with muscle form progressive myopathy and cardiomyopathy can develop even after a long time, despite the treatment.

The only effective method of treatment in the classical (hepatic) form of type IV glycogenosis is liver transplantation.