Galactosemia is a congenital metabolic disease associated with a lack of galactose-1-phosphaturidyl transferase. This enzyme is indispensable in the conversion of galactose to glucose.
The basis of the disease is the accumulation of galactose by the body, as a result of which the kidneys, liver, and the central nervous system are damaged. Late detection of the disease and lack of treatment can lead to death. Disease transmission occurs in an autosomal recessive manner. Therefore, the risk group is formed by babies whose parents are carriers of the defective gene. In different countries, the spread of the disease varies between 1 child in 10,000 - 50,000 newborns.
Symptoms of galactosemia
Clinical signs of the disease appear at an early age due to the fact that unmetabolized galactose is found in dairy products. At the first stages, a newborn may look like a completely healthy and strong baby, however, after a few days or weeks, digestive disorders are observed, which cause malnutrition, weak weight gain, low blood sugar, irritability, lethargy.
If the disease is not diagnosed, symptoms of liver damage appear, expressed in jaundice, hemorrhagic syndrome, enlarged liver, cirrhosis. In just a few weeks, visual impairment (cataracts), kidney problems, convulsions, and swelling of the extremities will be added to the above-described disorders. A few months later, there is a delay in psychomotor development, growth, motor skills and a decrease in bone density. The above symptoms can be combined in various ways.
Galactosemia treatment
The main condition for successful treatment is the elimination of all products containing galactose. This category includes not only milk and dairy products, but also the entrails of animals. In the early stages of a baby's life, milk is replaced with artificial mixtures or soy milk. It is very important that the body of the crumbs receives a sufficient amount of calcium.
Over time, the diet expands with meat, green vegetables and fish. The issue of stopping the diet remains controversial until now, some doctors are of the opinion that at the age of 10 it is possible to stop observing it, while others insist on a lifelong diet.
Often, galactosemia is confused with lactose intolerance, but it should be understood that in the case of the first disease, the risk of developing pathological disorders is much higher. A timely diagnosed disease will allow the child to lead a normal life, the best help for him will be the selection of the correct diet with a varied diet.
