August 12, 2017 17:52 | Genetic Diseases

Fruktozemiya-hereditary disease, consisting in fructose intolerance, which is associated with impaired metabolism in the body.First described the disease in 1956

immediate cause fructose intolerance is a hereditary defect in the system of enzymes, which are located in the liver cells, and directly involved in its metabolism.Thus the activity of these enzymes in the body of the sick person is only 2-4% as compared with healthy.In this regard, the conversion of fructose is delayed at a certain stage, leading to accumulation of toxic products.Dispatched fruktozemiya an autosomal recessive inheritance type.

fruktozemii characteristic manifestations are: disorders of the gastrointestinal tract, delayed physical development of the child, periodic crises of hypoglycemia (drastic reduction in the number of blood glucose) up to loss of consciousness and shock, enlarged liver.The disease is usually detected in the first

weeks and months of a child's life from the time when the baby begins to get juices and

foods containing fructose, - sweet tea, fruit juices, vegetable and fruit puree.In this case the child appears persistent vomiting after each feeding, loss of appetite and weight loss, the child becomes lethargic, pale skin, the tips of the fingers and toes, nose and ears become cyanotic hue that is known acrocyanosis.From time to time you may receive sedation, until the development of coma.Increasing the size of the liver occurs somewhat later, although there have been cases where signs of liver injury prevailed over the other signs fruktozemii.At the same time the child appeared persistent jaundice, serum in the biochemical study reveals decline in the amount of protein.In older children and adults fructose intolerance can manifest only distaste for sweet food.

Laboratory tests in people with the disease is determined by the sugar in the urine, which is characteristic of fructose.Many protein found in the urine, sometimes leukocytes may urinary excretion of large amount of amino acids.The blood sugar level determined fasting remains within the normal range, or may be somewhat reduced (the rate of 3,33-5,55 mmol / l).Investigated offer fructose drink solution (based on 1.2 g fructose per 1 kg body weight) after which content is determined in the blood and fructose, and glucose.This marked increase in the amount of fructose and glucose reduction.From

diet of people suffering from this disease exclude sugar, fruits and honey.Many older children and adults, sick fruktozemiey themselves avoid taking sweet dishes.If the disease is detected in a timely manner and the introduction of carbohydrates from food is limited, the prognosis for life and health favorable.

addition to the above intolerance of fructose, there is a benign fructosuria that has no characteristic features.When the disease occurs fructose excretion in the urine output volume and this depends on the amount of carbohydrate taken with food.Furthermore, fructosuria may develop in some cases on the background of chronic liver diseases.