galaktozemia

Galaktozemia is a rare genetic disorder that affects the body's ability to metabolize galactose, a type of sugar found in milk and other dairy products. The condition is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase (GALT), which is responsible for converting galactose into glucose. Without this enzyme, galactose accumulates in the body, leading to a buildup of galactose-1-phosphate in the liver, kidneys, and other tissues.

Galaktozemia is typically diagnosed in infancy or early childhood, often through newborn screening programs. Symptoms may include vomiting, diarrhea, poor feeding, jaundice, and failure to thrive. In severe cases, the condition can lead to liver damage, kidney failure, and other complications. Treatment for galaktozemia involves a strict diet that limits or eliminates dairy products and other sources of galactose. In some cases, enzyme replacement therapy may be used to supplement the body's natural production of GALT.

The prevalence of galaktozemia varies depending on the population, but it is estimated to affect approximately one in 60,000 to one in 100,000 individuals worldwide. The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene responsible for producing GALT must be mutated for the disorder to occur. Individuals with one mutated copy of the gene are carriers and may not exhibit any symptoms, but they can pass the mutation on to their children.

In summary, galaktozemia is a rare genetic disorder that affects the body's ability to metabolize galactose. Symptoms may include vomiting, diarrhea, and failure to thrive, and treatment typically involves a strict diet that limits or eliminates dairy products. The condition is inherited in an autosomal recessive pattern and is estimated to affect approximately one in 60,000 to one in 100,000 individuals worldwide.