Galactosemia (Galacfosaemid)

Galactosemia (Galacfosaemid) is a rare hereditary disease that is characterized by impaired metabolism of galactose, a sugar found in milk and dairy products. In a healthy person, galactose is broken down in the liver into glucose, which the body can use as an energy source. However, with galactosemia, this process is disrupted, and galactose begins to accumulate in the blood.

Galactosemia is a hereditary disease and is passed from parents to children. It occurs due to the presence of an altered gene that is responsible for processing galactose. Depending on how severely the function of this gene is impaired, galactosemia can manifest itself in varying degrees of severity.

Symptoms of galactosemia in infants may appear immediately after birth or appear during the first weeks of life. These may include:

1. Unusual weakness and restlessness
2. Reluctance to eat or poor weight gain
3. Stopping growth
4. Vomiting and diarrhea
5. Increased jaundice
6. Liver problems

If galactosemia is not treated, children may experience delayed physical and mental development. However, if treatment is started at an early stage and galactose intake is eliminated from food, the child's growth and development can proceed normally.

Treatment of galactosemia involves eliminating galactose from food. This means that children with this condition should avoid milk and dairy products. Instead, they need to eat special foods that do not contain galactose. In some cases, additional medications may be prescribed.

In conclusion, galactosemia is a serious disease that requires early diagnosis and treatment. If you suspect that your child may have galactosemia, contact your doctor for advice and appropriate treatment. Timely and correct treatment will help your child grow up healthy and strong.

Galactosemia (Galacfoasemd). >Description

__Galactosemia__ is a rare and unique genetic pathology in the field of human biochemistry, which is caused by a mutation in the GLUCOSE-6 PHYSOPHOPATE DEHYDROGENASE 2 gene (GALE)

The disease is chronic, progressive, the symptoms of which are