galactosemia

August 12, 2017 17:52 | Genetic Diseases

Galactosaemia - a hereditary disease, which interferes with the process of transformation of galactose to glucose.Galactose metabolism and its products accumulate in human cells, providing a damaging effect on the liver, nervous system and other organs.The first observation galactosemia dates back to 1908, however, the interest of researchers to the disease increased particularly after became known direct cause of the disease.

emergence of hereditary metabolic abnormalities caused by violation of the conversion of galactose to glucose due to lack (or absence) of a specific enzyme involved in this process.In the cells of an organism to accumulate a substance which can cause intoxication.Especially hard damaged cells of the central nervous system, liver, kidneys, and developing blurred eye lens.The disease is transmitted in an autosomal recessive inheritance type.Symptoms of the disease are disorders of the gastrointestinal tract - diarrhea and vomiting in the first days of life.After the child's transf

er to tea and water break his condition is improving, but the introduction of milk in the diet leads to a re-emergence of signs of disorders of the digestive system.In addition, the child shows signs of abnormal liver function, which include: persistent jaundice, a significant increase in the size of the liver, cirrhosis of the liver.In the study of blood in this case reveal an increase in bilirubin, reducing the amount of protein and platelets.Later, the child may have cataract - cataract, but this feature may be absent.Also, as the child grows it becomes apparent mental and physical retardation.In a study of urine in some cases revealed signs of renal injury: the appearance of protein in the urine, the allocation of a large number of amino acids.

There are mild forms of the disease, in which all manifestations of the disease are mild.Known most benign variant galactosemia, in which a person develops cataracts, and signs of liver damage is not observed.

Galactosaemia is transmitted in an autosomal recessive inheritance type.Some importance in the development of the disease is the presence of consanguineous marriages, the presence of similar cases of illness in the family, and some other conditions.

signs of mild galactosemia may be jaundice and an enlarged liver and increase of bilirubin in the biochemical study of blood.In this case, exclude the diagnosis of infective hepatitis can be by the following features: color of feces and urine remains unchanged, the protein content of the serum remains at normal numbers.At the same time when the disease becomes white Botkina feces, urine, conversely, assumes a dark color, reduced the amount of protein in blood plasma as determined in biochemical research.If galactosemia with urine output large amounts of galactose, as determined by means of special methods of investigation.In addition, as mentioned above, the role played by the presence of closely related family marriages human patient.

galactosemia Treatment is a complex task, as a child with the disease is to be transferred to the dairy-free feeding.Recommended full or partial replacement of the female, or cow's milk and soy milk, and feeding mixtures, representing already partially digested carbohydrate molecules that do not contain in its composition galactose.Once the diagnosis is recommended as early as possible to enter into a child's diet as a supplementary feeding vegetable dishes, meat broth.In recent years, it has been found that administration of children with galactosemia orotic acid helps to normalize galactose metabolism.