What metabolic defect causes galactosemia?

The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridylyl transferase (GALT) which is vital to this process.

What is GALT galactosemia?

What causes galactosemia? Classic galactosemia occurs when an enzyme called galactose-1-phosphate uridyltransferase (GALT) is missing or not functional. This liver enzyme is responsible for breaking down galactose (a sugar byproduct of lactose found in breast milk, cow’s milk and other dairy foods) into glucose.

What causes galactosemia jaundice?

Classic galactosemia results from mutations in the galactose-1-phosphate uridyl transferase gene and causes infants to present with jaundice after initiation of lactose containing formulas. Jaundice associated with galactosemia is often thought to have a prominent direct fraction.

What are symptoms of galactosemia?

Symptoms of galactosemia are:

• Convulsions.
• Irritability.
• Lethargy.
• Poor feeding — baby refuses to eat formula containing milk.
• Poor weight gain.
• Yellow skin and whites of the eyes (jaundice)
• Vomiting.

Who is most affected by galactosemia?

Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare.

Can galactosemia go away?

There is no cure for classic galactosemia; instead, children are treated with a special galactose-free diet in which they avoid all milk and milk-containing products as much as possible for the rest of their lives. This includes: Breastmilk. Cow’s milk-based baby formula.

How does galactosemia affect the liver?

Galactosemia means too much galactose builds up in the blood. This accumulation of galactose can cause serious complications such as an enlarged liver, kidney failure, cataracts in the eyes or brain damage. If untreated, as many as 75% of infants with galactosemia will die.

How does hypothyroidism cause jaundice?

Congenital hypothyroidism: Hypothyroidism causes decreased rate of bilirubin conjugation, slows gut motility and impairs feeding, all contributing to jaundice.

What foods should be avoided with galactosemia?

A child on a galactose-restricted diet can eat most foods containing protein, such as beef, poultry and eggs. They can also eat most types of fruits, vegetables, and grains….A person with galactosemia must avoid foods containing milk and all dairy products, such as:

• Cow’s milk.
• Butter.
• Yogurt.
• Cheese.
• Ice cream.

Can people with galactosemia have kids?

That can cause developmental disabilities. Some children have issues with their motor skills and muscles. For girls, it can cause their ovaries to stop working. Most with this condition can’t have children.