About classic galactosemia

What is classic galactosemia?

Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by a deficiency of an enzyme known as "galactose-1-phosphate uridyl transferase" which is vital to this process.

Galactosemia may also be referred to as classic galactosemia because a few variants of the gene for galactosemia have been identified. One variant causes a milder form of the disorder known as Duarte galactosemia. Classic galactosemia is the most severe form.

Because milk is the staple of an infant's diet, early diagnosis and treatment of this disorder is absolutely essential to avoid serious lifelong disability.

What are the symptoms for classic galactosemia?

If your newborn has classic galactosemia, they’ll appear normal at birth. Symptoms start to show up within a few days after they begin to drink breast milk or formula with lactose -- the milk sugar that contains galactose.

Your baby first loses their appetite and starts vomiting. Then they get jaundice, a yellowing of the skin and the whites of their eyes. Diarrhea is common, too. The disease leads to severe weight loss and your baby struggles to grow and thrive.

Without treatment, over time your child may develop cataracts and can be susceptible to infections. They may have liver damage and kidney problems. Their brain may not mature well. 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.

What are the causes for classic galactosemia?

Galactosemia is hereditary. Both parents must pass it down for their child to get it.

If your baby has this condition, it means the genes that produce the enzymes to break down galactose into glucose (a sugar) are missing key parts. Without these parts, the genes can’t tell the enzymes to do their job. This causes galactose to build up in the blood, creating problems, especially for newborns.

What are the treatments for classic galactosemia?

Every baby born at a U.S. hospital is given what’s called a newborn screening. A blood sample is taken from a heel stick (a tiny cut in the baby’s foot) and it is tested for several conditions. Galactosemia is one of them.

If your baby shows signs of the illness, your doctor will suggest a follow-up test to confirm. This test will include both a blood and urine sample.

If your child has galactosemia, your doctor will work with you to plan a diet. Lactose and galactose are taken out of their diet. Instead, they’re given soy-based formula and must avoid milk or milk byproducts.

Though a person with galactosemia will never be able to process this type of sugar, they can live normal lives if the disease is caught early enough.

Along with eliminating dairy, your doctor may recommend cutting out some fruits, vegetables, and candies that contain galactose. In addition, your child may need to take vitamin and mineral supplements such as calcium, vitamin C, vitamin D, and vitamin K.

What are the risk factors for classic galactosemia?

Classic galactosemia is diagnosed in the range of 1/16,000 to 1/48,000 births through newborn screening programs around the world, depending on the diagnostic criteria used by the program. The disorder has been reported in all ethnic groups. An increased frequency of galactosemia occurs in individuals of Irish ancestry. Clinical variant galactosemia occurs most often in African Americans and native Africans in South Africa who have a specific <emgalt< em="">gene mutation.</emgalt<>

Is there a cure/medications for classic galactosemia?

There is no cure for galactosemia, but appropriate treatment (i.e., antibiotic drugs) may be used to control infection in the newborn period. The emotional effects of the strict diet may require attention and supportive measures throughout childhood.

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