About Galactose epimerase deficiency

What is Galactose epimerase deficiency?

Galactose epimerase deficiency is a rare inherited disorder caused by a deficiency of the enzyme galactose epimerase. This enzyme is responsible for converting galactose to glucose, which is an important step in the metabolism of carbohydrates. People with this disorder are unable to properly metabolize galactose, leading to a buildup of galactose in the body. Symptoms of galactose epimerase deficiency can include vomiting, diarrhea, poor growth, and jaundice. Treatment typically involves a low-galactose diet and supplementation with glucose.

What are the symptoms of Galactose epimerase deficiency?

The symptoms of galactose epimerase deficiency include:

-Failure to thrive
-Vomiting
-Diarrhea
-Liver dysfunction
-Jaundice
-Developmental delay
-Cataracts
-Hearing loss
-Hypoglycemia
-Hypotonia
-Seizures
-Lethargy
-Feeding difficulties
-Abnormal liver enzymes

What are the causes of Galactose epimerase deficiency?

Galactose epimerase deficiency is caused by mutations in the GALE gene. These mutations lead to a deficiency in the enzyme galactose epimerase, which is responsible for converting galactose to glucose. This deficiency can lead to a buildup of galactose in the body, which can cause a variety of symptoms, including vomiting, diarrhea, jaundice, and failure to thrive.

What are the treatments for Galactose epimerase deficiency?

The primary treatment for galactose epimerase deficiency is a galactose-restricted diet. This means avoiding foods that contain galactose, such as milk, yogurt, and other dairy products. Other treatments may include taking supplements of galactose-free lactose, taking medications to reduce the amount of galactose in the body, and taking vitamins and minerals to help the body absorb nutrients. In some cases, a liver transplant may be necessary.

What are the risk factors for Galactose epimerase deficiency?

1. Inheritance: Galactose epimerase deficiency is an autosomal recessive disorder, meaning that it is passed down from both parents.

2. Ethnicity: Galactose epimerase deficiency is more common in certain ethnic groups, such as Ashkenazi Jews, French Canadians, and Finns.

3. Age: Galactose epimerase deficiency is more common in infants and young children.

Is there a cure/medications for Galactose epimerase deficiency?

At this time, there is no cure for galactose epimerase deficiency. However, there are medications available to help manage the symptoms. These medications include galactose-restricted diets, galactose-free formulas, and enzyme replacement therapy.