Glycogen storage disease
Glycogen - a common name of a group of hereditary diseases provoked by defects or the absence of enzymes that are involved in the breakdown and synthesis of glycogen.
Glycogen is a source of hydrocarbon required for immediate provide energy. Digested liver, hydrocarbons uninterruptedly supplying glucose erythrocytes and brain. When glycogen is broken smooth functioning of enzymes for the processing of glycogen, the body accumulates excess amount of his or pathological variety.
Glycogen storage disease is inherited and is a rare, occurs in 1: 40,000 cases. When different types of glycogen storage disease first signs of the disease may occur at different ages. The complexity of the disease depends on whether the enzyme is missing or damaged.
On localization of glycogen accumulation in organs and tissues glycogenoses divided into the following main forms:
Signs of hepatic glycogen storage forms usually appear 8-9 months of life. The beginning of the attacks are infrequent hyperglycemia, accompanied by convulsions of limbs, transient loss of consciousness. Such attacks occur in the morning before eating and prevents reception of sweet water. Children look specifically: unnaturally thin arms and legs, big belly, stunting, face like a doll, a marked increase in liver visually. The first 4-5 years of life are the most dangerous, because for glycogen storage disease is complicated by a variety of infectious diseases. With age, the body develop compensatory mechanisms for the exchange, which contribute to a significant improvement in the patient's condition. On the intellectual development, as a rule, does not affect glycogen.
Signs of muscle glycogen accumulation forms are usually in the 7-10 years. Sick child tires easily with little physical exertion, it becomes inactive. Progressive muscle weakness provokes pain in the muscle groups, increased heart rate, shortness of breath. Develop these symptoms until 25-35 years, the appearance of the patient is practically not recognized, liver and kidneys are usually normal. The changes are found only in muscle tissue, which is characterized by atrophy and hypotonia.
In generalized form of glycogen storage disease glycogen accumulates a large number of almost all tissues and organs. Clinic diverse diseases, for progressive.
Aglikogenoz or glycogen storage disease type zero - an inherited genetic disorder caused by the complete absence in the patient uridine diphosphate-glucose-glycogen transferase, or glycogen, enzymes responsible for the synthesis of glycogen.
Aglikogenoz as glycogenosis accompanied hypoglycemia and hypoglycemic seizures (preferably in the morning), the blood sugar level may fall to 7-12 mg%. They can prevent extremely frequent night feedings. To confirm aglikogenoza requires the biopsy of the liver enzymes on and glycogen.
Treatment aglikogenoza or glycogen storage disease type zero only symptomatic and the prognosis of the disease, unfortunately, poor.
Families where there was a similar disease to prevent child with glycogen storage aglikogenozom or zero type required genetic consultation in the early stages of pregnancy.
Treatment of glycogen storage disease and aglikogenoza
The main objective of the treatment of various types of glycogen storage disease is to prevent hypoglycemia. To reduce glycogen content in the blood is recommended:
- High-protein diets;
- Frequent meals;
- Admission fructose, multivitamins, ATP;
- Therapy enzymes missing in a particular form of glycogen storage disease;
- Decrease physical activity.
For patients with different types of glycogen storage is required to follow-up physician (pediatrician) clinics and doctors Medical Genetics Center.