Glycogenoses

Glycogenoses are a general name of group of the hereditary diseases provoked by defects or lack of enzymes which participate in splitting or synthesis of a glycogen. Гликогеноз печеночной формы

The glycogen is a source of the hydrocarbons necessary for immediate providing an organism with energy. Being split in a liver, hydrocarbons smoothly supply with glucose erythrocytes and a brain. At glycogenoses smooth operation of enzymes on processing of a glycogen is broken, in an organism its excess quantity or pathological versions collects.

Glycogenoses a disease hereditary and rather rare, meet in 1:40000 cases. At various types of glycogenoses the first symptoms of a disease can be shown at different age. Complexity of a disease depends on what enzyme is absent or is damaged.

Glycogenosis forms

On localization of accumulation of a glycogen in bodies and fabrics glycogenoses subdivide into the following main forms:

Hepatic;
Muscular;
Generalized.

Signs of a hepatic form of accumulation of a glycogen are usually shown on 8-9 month of life. Infrequent attacks of a hyperglycemia which are followed by spasms of extremities, a short-term loss of consciousness become the beginning. Such attacks happen in the morning prior to the beginning of food and are prevented by reception of sweet water. Children specifically look: unnaturally thin hands and legs, a pot-belly, a delay in growth, the person as at a doll, visually noticeable increase in a liver. The first 4-5 years of life the most dangerous as the current of a glycogenosis becomes complicated various infectious diseases. With age in an organism compensatory mechanisms of exchange which promote considerable improvement of a condition of the patient develop. As a rule, the glycogenosis does not affect intellectual development.

Signs of a muscular form of accumulation of a glycogen are shown usually in 7-10 years. The sick child quickly is tired at insignificant exercise stresses, becomes slow-moving. The progressing muscular weakness provokes the loaded muscle pains, heartbeat strengthening, an asthma. These symptoms up to 25-35 years develop, practically do not affect outward of patients, the liver and kidneys are usually normal. Changes are found only in muscular tissue of which the atrophy and hypotonia are characteristic.

At a generalized form of a glycogenosis a large number of a glycogen collects practically in all fabrics and bodies. The clinic of a disease is diverse, the current progressing. Гликогеноз мышечной формы

Aglikogenoz

Aglikogenoz or a glycogenosis of zero type – the hereditary genetic disease caused by total absence in the patient's organism уридиндифосфат-глюкозо-гликоген-трансферазы or glikogensintetaza, the enzymes which are responsible for synthesis of a glycogen.

Aglikogenoz, as well as a glycogenosis, is followed by a hypoglycemia and hypoglycemic spasms (preferential in the mornings), at the same time the content of sugar can fall in blood to 7-12 mg of %. It is possible to prevent them exclusively frequent night feedings. Confirmation of an aglikogenoz requires a biopsichesky research of a liver on enzymes and a glycogen.

Treatment of an aglikogenoz or glycogenosis of zero type exclusively symptomatic, and forecast of disease, unfortunately, adverse.

To families where similar diseases were observed, medicogenetic consultation on early durations of gestation is necessary for prevention of appearance of the child with aglikogenozy or a glycogenosis of zero type.

Treatment of a glycogenosis and aglikogenoz

The main objective of treatment of different types of a glycogenosis is prevention of a hypoglycemia. For decrease in maintenance of a glycogen in blood it is recommended:

Protein-rich diet;
Frequent meals;
Reception of fructose, polyvitamins, ATP;
Therapy by the enzymes which are absent at a specific form of a glycogenosis;
Reduction of exercise stresses.

For patients with different types of glycogenoses dispensary observation of the therapist (pediatrician) of policlinic and doctors of the medicogenetic center is obligatory.

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