What Is Galactosemia? — Galactosemia Foundation

Galactosemia is a condition with multiple forms, each of which have different causes and outcomes. The type of galactosemia discussed on this page, classic galactosemia, is only one form of the condition. You can read about different types of the galactosemia on the pages for and .

Classic and clinical variant galactosemia are rare genetic metabolic disorders

If your baby’s result for classic galactosemia (GALT) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An may occur because the initial was too small or the test was performed too early. However, a few babies do have the condition so it is very important that you go to your follow-up appointment for a . Because the harmful effects of untreated GALT can occur within days after birth, must be completed as soon as possible to determine whether or not your baby has the condition.

OMIM Entry - # 230400 - GALACTOSEMIA

Follow-up testing will involve a blood test and a urine test to measure the amount of certain substances present in your baby’s body. Undigested sugars build up in the body when a child has GALT, so measuring the amounts of these sugars and other substances can help doctors determine if your baby has a condition. Individuals with GALT have low levels of GALT enzyme and high amounts of undigested sugars in their body. Genetic testing for classic galactosemia may also be necessary to confirm the diagnosis.

Classic galactosemia is a rare genetic metabolic disorder. A child born with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers.

Support groups can help connect families who have a child or other family member affected with classic galactosemia (GALT) with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.

Variation exists in recommendations for nutrition management of classic galactosemia. • Review of current diet recommendations for treatment of this disorder is …

Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s may help you coordinate care with a doctor who specializes in metabolism, a dietician who can help plan your child’s specialized diet, or other medical resources in your community. Some children with classic galactosemia (GALT) have developmental delays. If you think that your baby is not meeting his or her developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care.