What is Type XI Glycogenosis?
Glycogenosis of the XI type is a hereditary disease, which is caused by a lack of enzymes involved in the metabolism of glycogen; characterized by a violation of the structure of glycogen, insufficient or excessive accumulation of it in various organs and tissues.
Causes of Type XI Glycogenosis
The type of inheritance is not set.
Pathogenesis during Type XI Glycogenosis
An enzyme defect is found in the liver and kidneys.
Symptoms of Type XI Glycogenosis
Glycogenosis type XI is characterized by a significant increase in the liver and a sharp growth retardation. Symptoms of hypophosphatemic rickets are observed. In the puberty, a decrease in the size of the liver, acceleration of growth, normalization of the level of phosphorus in the blood are possible.
Diagnosis of Type XI Glycogenosis
The activity of transaminases and the level of lipids in the blood serum can be increased, the phosphate content is reduced. Generalized hyperaminoaciduria, galactosuria, glucosuria, phosphaturia are characteristic.
Treatment of Type XI Glycogenosis
The treatment is aimed at combating metabolic disorders, including with acidosis. In some cases, the use of glucagon, anabolic hormones and glucocorticoids is effective. Frequent meals high in easily digestible carbohydrates are essential for hypoglycemia. With muscle forms of glycogenosis, improvement is observed when dieting with a high protein content, the administration of fructose (inside 50-100 g per day), multivitamins, ATP. Attempts are being made to introduce missing enzymes to patients.
Patients with glycogenosis are subject to clinical observation by a doctor of the medical-genetic center and a pediatrician (therapist) of the clinic.
Prevention of Type XI Glycogenosis
Prevention is not developed. To prevent the birth of a child with glycogenosis in families where there were similar patients, medical and genetic counseling is carried out.