Galactosemia is a congenital metabolic disease associated with a deficiency of galactose-1-phosphaturidyl transferase. This enzyme is indispensable in the process of converting galactose to glucose.
At the heart of the disease is the accumulation of the bodyGalactose, as a result of damage to the kidneys, liver, central nervous system. Untimely detection of the disease and lack of treatment can lead to death. Transmission of the disease occurs autosomally recessively. Therefore, the risk group is formed by children whose parents are carriers of the defective gene. In various countries, the spread of the disease varies between 1 child per 10 000 - 50 000 newborns.
Symptoms of galactosemia
Clinical signs of the disease appear inEarly age due to the fact that the unmetabolized galactose is found in dairy products. At the first stages, the newborn can look quite healthy and strong baby, but after a few days or weeks, there are digestive disorders that cause malnutrition, low weight gain, low blood sugar, irritability, lethargy.
If the disease is not diagnosed,Symptoms of liver damage, expressed in jaundice, hemorrhagic syndrome, liver enlargement, cirrhosis. Only a few weeks and to the above violations will add impaired vision (cataracts), kidney problems, convulsions, swelling of the extremities. After several months, the psychomotor development, growth, motor skills and bone density decrease appear. The above symptoms can be combined in different ways.
Treatment of galactosemia
The main condition for successful treatment isExclusion of all products containing galactose. This category includes not only milk and dairy products, but also the insides 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 receives a small amount of calcium.
Over time, the diet expands at the expense of meat,Green vegetables and fish. The issue of cessation of the diet remains controversial until now, some doctors are of the opinion that at the age of 10 years you can stop it, others insist on a life-long diet.
Often, galactosemia is confused with intoleranceLactose, but it is worth noting that in the case of the first disease, the risk of developing pathological disorders is significantly higher. Timely diagnosed disease will allow the child to lead a normal lifestyle, the best help for him will be choosing the right diet with a varied diet.