Treatment of glycogenoses

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

Non-drug treatment of glycogenosis

Glycogenosis type I

Initially, treatment recommendations included only frequent feedings with increased carbohydrate content, but this did not always allow maintaining normal glucose levels throughout the day. Therefore, in addition to frequent daytime feedings, nighttime feedings through a nasogastric tube are indicated for young children with severe hypoglycemia, which ensures normal blood glucose levels, as well as a full night's sleep for patients and their parents. Glucose and glucose polymer solutions are administered through a nasogastric tube, or a special formula of the mixture (without sucrose and lactose) enriched with maltodextrin is used. Tube feeding should be started 1 hour after the last evening meal. In some cases, in patients with type 1a glycogenesis, feeding is carried out through a gastrostomy. Gastrostomy is contraindicated for patients with type lb due to the high risk of infection. All patients are prescribed a high-carbohydrate diet: carbohydrates - 65-70%, proteins - 10-15%, fats - 20-25%, frequent feedings. To increase the interval between meals, raw corn starch is used. Since the activity of pancreatic amylase in children under 1 year is insufficient, 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 so as not to provoke an insulin surge. To determine the frequency of administration of corn starch, it is necessary to conduct daily monitoring of blood glucose levels during its use. In most patients, starch intake allows maintaining normal glucose levels for 6-8 hours. Excess glucose may cause undesirable hyperglycemia, making patients more sensitive to hypoglycemia and increasing the rate of fat deposition. During intercurrent infections, glucose levels and intake should be monitored, although this may be difficult due to nausea, refusal to eat, and diarrhea. With an increase in body temperature, glucose is metabolized more quickly, so some additional feedings should be replaced with glucose polymer solutions. In acute cases, 24-hour continuous feeding through a nasogastric tube and hospitalization in a clinic for infusion therapy are necessary. The answer to the question of complete exclusion of fruits (as a source of fructose) and dairy products (a source of galactose) is ambiguous, since 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 them from the diet. In case of emergency surgery, it is necessary to normalize the blood clotting time by continuous feeding through a tube for several days or by infusion therapy with glucose solutions for 24-48 hours.Glucose and lactate levels must be monitored during surgery.

Glycogenosis type III

The main goal of diet therapy is to prevent hypoglycemia and correct hyperlipidemia. Diet therapy is similar to that in glycogenosis 1a, but since the tendency to hypoglycemia is less pronounced, in most cases the administration of corn starch is sufficient to maintain normal glucose levels during the night. In glycogenosis type III, unlike glycogenosis type I, there is no need to limit fructose and lactose, since their metabolism is not impaired. Hepatomegaly with liver dysfunction and biochemical abnormalities, found in all patients in childhood, tend to disappear in the postpubertal period. However, some patients may develop cirrhosis of the liver. About 25% of such patients develop liver adenoma.

Glycogenosis type IV

Patients with glycogen storage disease type IV do not require dietary intervention.

Glycogenosis type VI

Treatment is symptomatic and consists of preventing hypoglycemia. A high-carbohydrate diet is prescribed.

Glycogenosis type IX

Treatment is symptomatic and consists of preventing hypoglycemia. A high-carbohydrate diet and frequent feedings during the day are prescribed; late and night feedings are also recommended at an early age. The prognosis for hepatic forms of glycogenosis type IX is favorable.

Glycogenosis type O

Treatment is symptomatic and involves preventing hypoglycemia. High-carbohydrate diets, frequent feedings, and late night feedings in children are prescribed. Although most patients do not suffer from intellectual disability, developmental delays may occur due to frequent periods of hypoglycemia. Tolerance to fasting increases with age.

Glycogenosis type V

There is no specific treatment. Sucrose improves exercise tolerance and can have a preventive effect if consumed before the planned exercise. Sucrose quickly turns into glucose and fructose, both compounds bypass the biochemical block during their metabolism and improve glycolysis.

Glycogen type VII

There are no specific treatments. Unlike glycogenosis type V, glycogenosis type VII requires limiting sucrose intake. Patients with this disease tolerate physical activity worse after eating high-carbohydrate foods, 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.

Drug treatment

Glycogenosis type I

Calcium and vitamin D preparations are prescribed. Increased carbohydrate metabolism should be supported by 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 the patient has microalbuminuria, angiotensin-converting enzyme inhibitors are necessary to prevent renal dysfunction. In order to reduce the risk of pancreatitis and gallstones in severe hypertriglyceridemia, drugs that lower triglyceride levels (nicotinic acid) are indicated. Patients with lb with severe neutropenia are prescribed granulocyte colony-stimulating factor: lenograstim (Granocyte 34), filgrastim (Neupogen). Patients usually respond well to treatment with small doses (initial dose 2.5 mg / kg every other day). The spleen sometimes increases in size while taking the drug. Cytogenetic examination of bone marrow is required before treatment and 1 year after the drug is prescribed. The prognosis is favorable in most cases.

Glycogenosis type II

Currently, methods of treating the disease are being developed. The most promising of them is considered to be enzyme replacement therapy. The drug Myozyme (Genzyme) is a recombinant human enzyme alpha-glycosidase. The drug is registered in many European countries, the USA and Japan. Recently, several clinical studies have been conducted, which involved patients with the infantile form of the disease. 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. Moreover, the earlier the treatment is started, the more effective it is. Myozyme is prescribed at a dose of 20 mg / kg every 2 weeks, long-term, constantly.

Surgical treatment

In cases of poor correction of metabolic disorders by diet therapy methods for glycogenosis type I, liver transplantation is indicated.

Liver transplantation for type III glycogenosis is performed only in the case of irreversible liver changes. The prognosis is generally favorable for the liver form, but with the muscular form, progressive myopathy and cardiomyopathy can develop even after a long time, despite treatment.

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