About Galactosemia

What is Galactosemia?

Galactosemia is an inherited disorder in which the body is unable to properly metabolize the sugar galactose. People with galactosemia lack the enzyme galactose-1-phosphate uridyltransferase, which is needed to break down galactose. If left untreated, galactosemia can lead to serious health problems, including liver and kidney damage, cataracts, and mental retardation.

What are the symptoms of Galactosemia?

The symptoms of Galactosemia include vomiting, diarrhea, jaundice, poor feeding, lethargy, irritability, failure to thrive, and Enlarged liver and spleen. Other symptoms may include cataracts, speech delays, and developmental delays.

What are the causes of Galactosemia?

Galactosemia is caused by a genetic mutation in the GALT gene, which is responsible for producing the enzyme galactose-1-phosphate uridyltransferase (GALT). This enzyme is responsible for breaking down the sugar galactose, which is found in dairy products and other foods. Without this enzyme, galactose builds up in the body and can cause serious health problems.

What are the treatments for Galactosemia?

The primary treatment for galactosemia is a strict galactose-free diet. This means avoiding all foods that contain galactose, such as milk, yogurt, cheese, and other dairy products. Other treatments may include dietary supplements, such as L-carnitine and vitamin B12, to help manage symptoms. In some cases, medications may be prescribed to help reduce the levels of galactose in the blood.

What are the risk factors for Galactosemia?

1. Family history of Galactosemia
2. Genetic mutations in the GALT gene
3. Exposure to galactose-containing foods in utero
4. Premature birth
5. Low birth weight
6. Exposure to galactose-containing foods in infancy

Is there a cure/medications for Galactosemia?

Yes, there is a cure for galactosemia. Treatment involves a strict galactose-free diet, which eliminates all foods containing galactose. This includes milk and other dairy products, as well as some fruits, vegetables, and grains. Medications such as lactase enzyme supplements may also be prescribed to help break down lactose in the diet.