Galactosemia意思

Galactosemia is a genetic disorder that affects the body's ability to process galactose, a sugar found in milk and other dairy products. People with galactosemia lack the enzymes needed to break down galactose into glucose, which is a vital source of energy for the body. As a result, galactose accumulates in the body, leading to various health problems.

There are several forms of galactosemia, but the most common is classic galactosemia, which is caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). This enzyme is necessary for the metabolism of galactose. Without this enzyme, galactose cannot be converted into glucose and instead builds up in the body, causing damage to various organs, particularly the liver, kidneys, and brain.

Symptoms of galactosemia can appear shortly after birth and may include jaundice, vomiting, diarrhea, poor growth, and liver damage. If left untreated, galactosemia can lead to serious health complications, including developmental delays, cataracts, and kidney failure.

Treatment for galactosemia typically involves a strict diet that avoids all sources of galactose, including milk and other dairy products. This diet helps prevent the accumulation of galactose in the body and can significantly improve the health and quality of life for individuals with galactosemia. In some cases, enzyme replacement therapy or other medical interventions may also be used to manage the symptoms of the disorder.