Fructoseemia

Fructoemia is a hereditary disease consisting of intolerance to fructose, which is associated with impaired metabolism in the body. For the first time this disease was described back in 1956.

The direct cause of fructose intolerance is a hereditary defect in a system of enzymes located in the liver cells and taking a direct part in its metabolism. In this case, the activity of these enzymes in the body of a sick person is only 2-4% in comparison with healthy ones. In this regard, the transformation of fructose is delayed at a certain stage, leading to the accumulation of toxic products in the body. fructoemia is transmitted on an autosomal recessive type of inheritance.

Characteristic manifestations of fructoemia are: disorders of the gastrointestinal tract, delay in the child's physical development, periodic crises of hypoglycemia( a sharp decrease in the amount of glucose in the blood), up to loss of consciousness and shock, an increase in liver size. The disease is usually found in the first

weeks and months of the child's life from the moment when the child begins to receive juices and food containing fructose - sweet tea, fruit juices, vegetable and fruit purees. In this case, the child has persistent vomiting after each feeding, a decrease in appetite and weight loss, the child becomes sluggish, the skin is pale, the tips of fingers and feet, the tip of the nose and ears acquire a cyanotic shade, which is called acrocyanosis. From time to time, inhibition may occur, even to the development of coma. The increase in liver size occurs somewhat later, although there have been cases when signs of liver damage prevailed over the remaining signs of fructose. In this case, the child showed persistent jaundice, in the blood serum, a biochemical study revealed a decrease in the amount of protein. In older children and adults, fructose intolerance can be manifested only by aversion to sweet food.

In a laboratory examination, people with this disease are diagnosed with sugar in the urine, which is typical for fructose. Many people in the urine find a protein, sometimes leukocytes, possibly removing a large number of amino acids from the urine. The blood sugar level, determined on an empty stomach, remains within the normal range or may be somewhat reduced( norm 3.33-5.55 mmol / l).The researcher is offered to drink a solution of fructose( at the rate of 1-2 g of fructose per 1 kg of weight), after which the content of blood and fructose and glucose are determined. At the same time there is an increase in the amount of fructose and a decrease in the glucose content.

From the diet of people suffering from this disease, exclude sugar, fruit and honey. Many older children and adults, who suffer from fructoemia, themselves avoid taking sweet foods. If the disease is recognized in a timely manner and the introduction of carbohydrates with food is limited, the prognosis for life and health is favorable.

In addition to the fructose intolerance described above, there is a benign fructosuria that has no characteristic features. With this disease, fructose is excreted in the urine, and the output volume of this carbohydrate depends on the amount taken with food. In addition, fructosuria can in some cases develop against a backdrop of chronic liver disease.