How to Treat Galactosemia

Galactosemia is a rare genetic disorder affecting an individual's ability metabolize galactose sugars. It is detected during a person's infancy, and early treatment can reduce the severity of its long-term complications, which can include speech defects, cataracts and an inability to perform intentional muscle movements.

Instructions

Difficulty: Moderately Challenging

1. Understand that infants in the United States are routinely screened for galactosemia shortly after birth. Ask your doctor if your newborn has been screened for the disorder, or request that a screening be performed. The quality of life in individuals suffering from the disorder can be substantially improved through early detection and treatment.
2. Know the symptoms of galactosemia. While symptoms will not be evident at birth, they soon will be because breast milk and baby formula both contain the galactose compound that the disorder prevents the infant from metabolizing. When significant amounts of galactose have built up in the bloodstream, symptoms will typically include jaundice, diarrhea, vomiting, an inability for the baby to gain weight and the development of cataracts.
3. Treat galactosemia by completely eliminating the presence of both galactose and lactose sugars in any food the patient eats. Unfortunately, this is the only known way to treat the disorder at present. Doctors are hopeful, however, that advancements in gene therapy will lead to treatments that will cure rather than simply manage the disorder.
4. Know which foods contain galactose and lactose sugars. The patient will not be able to eat any dairy products at all, since they all contain lactose. Be aware that many processed-food products, such as soups, deli meats, canned sauces and some baked goods, also contain lactose derivatives. Galactose is typically found in legumes (peas, lentils, peanuts, beans) as well as organ meats and processed meats.
5. Realize that there is another, albeit rarer, form of the disease that does not seem to respond to diet-based treatment. Officially known as "Galactose-1-phosphate uridyl transferase deficiency," this form of galactosemia affects approximately one person per every 100,000 births. Serious complications result from it because eliminating galactose and lactose appears to have no effect on the disease's pathology.
6. Undergo a DNA test if someone in your family suffers from galactosemia. The gene that causes the disorder must be present in both parents in order for a child to contract the disease.

Tips & Warnings

• It is of the utmost importance to detect and treat galactosemia as quickly as possible. If left untreated, galactosemia has a 75 percent mortality rate in infants.

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