Galactosemia – the congenital exchange disease connected with a shortcoming galaktozo-1-fosfaturidiltransferazy. This enzyme is irreplaceable in the course of transformation of a galactose to glucose.
Accumulation by an organism a galactose is the cornerstone of a disease, kidneys, a liver, the central nervous system are as a result injured. Untimely detection of a disease and lack of treatment can lead to a lethal outcome. Transfer of a disease happens in the autosomal and recessive way. Therefore the risk group is formed by kids whose parents are carriers of a defective gene. In various countries distribution the disease varies within 1 child on 10,000 - 50,000 newborns.
Galactosemia symptoms
Clinical signs of the desease appear at early age because the nemetaboliziruyemy galactose is in dairy products. At the first stages the newborn can look quite healthy and strong kid, however several days later or weeks digestion violations which become the cause of a hypotrophy, a weak increase in weight, to the low level of sugar in blood, irritability, slackness are observed.
If the disease is not diagnosed, there are symptoms of damage of a liver which are expressed in jaundice, a hemorrhagic syndrome, increase in a liver, cirrhosis. Only several weeks also will be added to the above violations visual impairment (cataract), problems with kidneys, spasms, hypostases of extremities. Several months later the delay of psychomotor development, growth, movement skills and reduction of density of bones is shown. Above-mentioned symptoms can be combined variously.
Treatment of a galactosemia
The main condition of successful treatment is exceptions of all products containing a galactose. Not only milk and dairy products, but also interiors of animals belong to this category. At early stages of life of the kid milk is replaced with artificial mixes or soy milk. It is very important that the organism of the baby received enough calcium. Over time the diet extends at the expense of meat, green vegetables and fish. The issue of the termination of a diet remains controversial still, some doctors hold the opinion that at the age of 10 years it is possible to stop its observance, others insist on a lifelong diet. Quite often the galactosemia is confused with intolerance of lactose, but it is worth understanding that in case of the first disease the risk of development of pathological violations is much higher. In due time diagnosed disease will allow the child to lead a usual life, selection of the correct diet with a various diet will be the best help for it.