What are the three types of galactosemia?

What are the three types of galactosemia?

There are 3 forms of the disease: Galactose-1 phosphate uridyl transferase (GALT) deficiency: Classic galactosemia, the most common and most severe form. Deficiency of galactose kinase (GALK) Deficiency of galactose-6-phosphate epimerase (GALE)

What is the most common type of galactosemia?

Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth.

Can adults develop galactosemia?

Galactosemia symptoms that adults may experience Cataracts 1 in 5 people with Galactosemia develop Galactosemia-related cataracts as an adult, which is caused by build-up of toxic galactitol in the lens of the eye.

Can a Galactosemic mother produce milk?

Galactose is a part of the milk sugar lactose, and lactose is the main sugar in breast milk. So, if a baby tests positive for classic galactosemia, they cannot breastfeed or take breast milk in a bottle.

Can galactosemia be cured?

There is no cure for galactosemia or approved medication to replace the enzymes. Although a low-galactose diet can prevent or reduce the risk of some complications, it may not stop all of them. In some cases, children still develop problems such as speech delays, learning disabilities, and reproductive issues.

What body parts does galactosemia affect?

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.

What are symptoms of galactosemia in adults?

The most common symptoms include:

• loss of appetite.
• vomiting.
• jaundice, which is yellowing of the skin and other parts of the body.
• liver enlargement.
• liver damage.
• fluid building up in the abdomen and swelling.
• abnormal bleeding.
• diarrhea.

Is galactosemia in newborn screen?

A galactosemia test is a blood test given to newborns to check for a rare genetic disorder called galactosemia. This disorder prevents the body from breaking down a simple sugar called galactose. Galactose is found in many foods and all dairy products. This includes breast milk and milk-based baby formulas.

Do babies grow out of galactosemia?

Galactosemia is a lifelong condition that children will not outgrow. However, galactosemia can be easily managed by following a galactose-free diet.

How long do people with galactosemia live?

With a galactose-restricted diet patients have a normal life expectancy. However, patients may still suffer long-term complications such as problems of mental development, disorders of speech, hypergonadotrophic hypogonadism and decreased bone mineral density (Bosch 2006).

Is galactosemia life threatening?

When galactose can’t be broken down and digested, it builds up in the tissues and blood in large amounts. Its byproducts also build up in large amounts. Because they are poisonous for the body, galactosemia may be life-threatening if not treated right away.

Can babies with galactosemia be breastfed?

In terms of infant conditions, galactosemia is clearly an absolute contraindication to breast-feeding. Breast milk is a rich source of lactose, and the very survival of infants with galactosemia is dependent on their receiving a non-lactose-containing formula.

Can you breastfeed a baby with galactosemia?

Babies and children with galactosemia need to avoid eating or drinking anything that has milk in it, whether from breastfeeding or from an animal. If they get too much galactose, it may damage their liver, kidneys, eyes, or brain.