Signs and Symptoms of Galactosemia

Since galactosemia is a rare inherited disorder its symptoms and treatment are widely unfamiliar to the public. It occurs in about 1 in 65,000 births in the United States. With this review, improve your understanding of the condition in which children are unable to break down and use the sugar galactose.

What Is Galactose?

Although many parents have never heard of galactose, it is actually a very common sugar, as together with glucose, it makes up lactose. Most parents have heard of lactose, the sugar found in breast milk, cow's milk and other forms of animal milk.

Galactose is broken down in the body by the enzyme galactose-1-phosphate uridylyltransferase (GALT). Without GALT, galactose and breakdown products of galactose, including galactose-1-phosphate galactitol and galactonate, build up and become toxic inside cells.

Symptoms

If given milk or milk products, a newborn or infant with galactosemia can develop signs and symptoms that include:

• Poor feeding
• Vomiting
• Jaundice
• Poor weight gain
• Failure to regain birth weight, which usually happens by the time a newborn is two weeks old
• Lethargy
• Irritability
• Seizures
• Cataracts
• An enlarged liver (hepatomegaly)
• Low blood sugar (hypoglycemia)

For a newborn with classic galactosemia, these symptoms may begin within days of starting to breastfeed or drinking a cow's milk-based baby formula. Fortunately, these early galactosemia symptoms usually go away once the child is started on a galactose-free diet if the diagnosis is made early.

Diagnosis

Most children with galactosemia are diagnosed before they develop many galactosemia symptoms because the condition is picked up on newborn screening tests that are done when the child is born. All 50 states in the U.S. test newborns for galactosemia.

If galactosemia is suspected based on a newborn screening test, confirmatory testing for levels of galactose-1-phosphate (gal-1-p) and GALT will be done. If the infant has galactosemia, gal-1-p will be high and GALT will be very low.

Galactosemia may also be diagnosed prenatally using chorionic villus biopsy or amniocentesis tests. Children who are not diagnosed by newborn screening tests and are having symptoms might be suspected of having galactosemia if they have something known as "reducing substances" in their urine.

Types

There are actually two types of galactosemia, depending on a child's level of GALT. Children can have classic galactosemia, with a complete or near-complete deficiency of GALT. They may also have partial or variant galactosemia, with a partial GALT deficiency.

Unlike infants with classic galactosemia, infants with variant galactosemia, including the Duarte variant, usually don't have any symptoms.

Treatments

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
• Cow's milk, goat's milk or dry milk
• Margarine, butter, cheese, ice cream, milk chocolate or yogurt
• Foods that list nonfat dry milk solids, casein, sodium caseinate, whey, whey solids, curds, lactose or galactose on the list of ingredients

Instead, newborns and infants should drink a soy-based baby formula, such as Enfamil Prosobee Lipil, Similac Isomil Advance or Nestle Good Start Soy Plus. If your baby doesn't tolerate a soy formula, an elemental formula, such as Nutramigen or Alimentum may be used instead. These formulas, however, do have small amounts of galactose.

Older children can drink a milk substitute made of isolated soy protein (Vitamite) or a rice drink (Rice Dream). Children with galactosemia will also have to avoid other foods that are high in galactose, including liver, some fruits and vegetables, and certain dried beans, especially garbanzo beans.

A registered dietitian or pediatric metabolic specialist can help you figure out which foods to avoid if your child has galactosemia. This specialist can also make sure that your child is getting enough calcium and other important minerals and vitamins. In addition, gal-1-p levels can be followed to see if a child's diet has too much galactose in it.

Controversial Dietary Restrictions

The dietary restrictions of children with variant galactosemia are more controversial. One protocol involves restricting milk and milk-containing products, including breast milk, for the first year of life. After that, some galactose would be allowed in the diet once the child is a year old.

Another option is to allow an unrestricted diet and watch for an elevation of gal-1-p levels. Although it seems like research is still being done to see which option is best, parents may be reassured that one small study did show that clinical and developmental outcomes up to one year were good in children with Duarte variant galactosemia, both in those who practiced dietary restriction and those who didn't.

What You Need to Know

Since galactosemia is an autosomal recessive disorder, if two parents are carriers for galactosemia, they will have a 25 percent chance of having a child with galactosemia, a 50 percent chance of having a child who is a carrier for galactosemia, and a 25 percent chance of having a child without any of the genes for galactosemia. Parents of a child with galactosemia will usually be offered genetic counseling if they plan to have more children.

Untreated newborns with galactosemia are at increased risk for E. coli septicemia, a life-threatening blood infection. Moreover, children with classic galactosemia may be at risk for short stature, learning disabilities, gait and balance problems, tremors, speech and language disorders, and premature ovarian failure.