Galactosemia

Galactosemia is a hereditary disease in which the process of converting galactose to glucose is disrupted. Galactose and the products of its metabolism accumulate in the cells of the human body, having a damaging effect on the liver, nervous system and other organs. The first observation of for galactosemia dates back to 1908, but the researchers' interest in this disease especially increased after the immediate cause of the disease became known.

The onset of a hereditary exchange anomaly is caused by a disruption in the conversion of galactose to glucose due to the inadequacy( or lack) of a particular enzyme involved in this process. In this case, in the cells of the body accumulate substances that can cause intoxication. Especially badly damaged cells of the central nervous system, liver, kidneys, clouding the lens of the eye develops. The disease is transmitted by an autosomal recessive type of inheritance. Signs of the disease are disorders of the gastrointestinal tract - diarrhea and vomiting from the first days of the child's life. After the transfer of the child to a tea-and-water break, his condition improves, but the introduction of milk into the diet leads to the re-occurrence of all signs of impairment on the part of the digestive system. In addition, the child has signs of impaired liver function, which include: persistent jaundice, a significant increase in liver size, cirrhosis. In the study of blood in this case, an increase in the content of bilirubin, a decrease in the amount of protein and platelets. Later, the child may develop a clouding of the lens - cataracts, but this sign may be absent. As the child grows, the delay in psychophysical development becomes noticeable. When examining urine, in some cases, signs of kidney damage are revealed: the appearance of protein in the urine, the release of a large number of amino acids.

There are also mild forms of the disease, in which all manifestations of the disease are poorly expressed. The most benign variant of galactosemia is known, in which a person develops a cataract, and there are no signs of liver damage.

Galactosemia is transmitted by an autosomal recessive type of inheritance. Certain value in the development of this disease has the presence of consanguineous marriages, the presence of cases of similar diseases in the family and some other conditions.

Signs of mild galactosemia may include jaundice and increased liver size, as well as an increase in bilirubin in a biochemical blood test. In this case, the diagnosis of Botkin's disease can be excluded by the following signs: staining of urine and urine remains unchanged, the protein content in the serum remains on normal figures. At the same time, with Botkin's disease, the feces become white, urine, on the contrary, acquires a dark color, the amount of protein in the blood plasma decreases, which is determined by biochemical research. With galactosemia, a large amount of galactose is excreted in the urine, which is determined by special methods of investigation. In addition, as mentioned above, the role is played by the presence of closely related marriages in the family of a sick person.

Treatment of galactosemia is a complex task, since a child with this disease should be transferred to dairy-free feeding. It is recommended full or partial replacement of female or cow's milk with soy milk, as well as feeding with mixtures that are already partially split carbohydrate molecules that do not contain galactose in their composition. After the diagnosis is established, it is recommended, as early as possible, to introduce vegetable dishes and meat broth into the ration of the child as a supplement. In recent years, it has been found that the appointment of children with galactosemia of orotic acid helps to normalize the exchange of galactose.