About Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)

What is Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)?

Galactosemia is an inherited disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). This enzyme is responsible for converting the sugar galactose into glucose, which is used by the body for energy. Without this enzyme, galactose builds up in the body and can cause a variety of health problems. Symptoms of galactosemia can include vomiting, diarrhea, jaundice, poor feeding, and failure to gain weight. If left untreated, galactosemia can lead to serious complications such as liver damage, kidney failure, and cataracts. Treatment for galactosemia involves a strict diet that eliminates all sources of galactose.

What are the symptoms of Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)?

The symptoms of Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) include:

-Jaundice
-Vomiting
-Diarrhea
-Lethargy
-Poor feeding
-Liver enlargement
-Cataracts
-Developmental delays
-Hypoglycemia
-Aminoaciduria
-Hyperammonemia
-Renal tubular acidosis

What are the causes of Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)?

Galactosemia is caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). This enzyme is responsible for converting the sugar galactose into glucose, which is used by the body for energy. Without this enzyme, galactose builds up in the body and can cause a variety of health problems. The most common cause of GALT deficiency is an inherited genetic mutation. Other causes include certain medications, liver disease, and malnutrition.

What are the treatments for Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)?

The primary treatment for Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) is a strict, lifelong diet that eliminates all sources of galactose. This includes avoiding milk and other dairy products, as well as foods that contain high levels of galactose, such as legumes, certain fruits, and certain vegetables. Additionally, supplements of glucose and fructose may be recommended to help maintain adequate levels of energy. In some cases, medications such as lactase enzyme supplements may be prescribed to help break down lactose in the diet. Finally, regular monitoring of blood sugar levels is important to ensure that the diet is working properly.

What are the risk factors for Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)?

1. Family history of Galactosemia
2. Ethnicity: Galactosemia is more common in people of Ashkenazi Jewish descent
3. Genetic mutation: A mutation in the GALT gene causes Galactosemia
4. Exposure to galactose: Galactose is found in dairy products, certain fruits, and other foods.

Is there a cure/medications for Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)?

Yes, there is a cure for Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia). The primary treatment for Galactosemia is a strict, lifelong diet that eliminates all sources of galactose, including milk and other dairy products. Medications such as lactase enzyme supplements may also be prescribed to help the body break down lactose, a type of sugar found in dairy products. Additionally, vitamin and mineral supplements may be recommended to help prevent nutritional deficiencies.