Galactosemia is a metabolic disorder, meaning the chemical process for breaking down food is not working properly.
Children with galactosemia are missing an enzyme that converts galactose into glucose for energy. Galactose is a simple sugar that is found in many foods, particularly dairy products.
One in 60,000 children is diagnosed with classic galactosemia in the United States. It is typically diagnosed within the first few weeks of life through a blood sample taken as part of a newborn screening. The child must be put on a strict dairy-free and galactose-free diet. This will help prevent severe complications such as cataracts, sepsis, multi-organ failure, brain damage or death. Maintaining this galactose-free diet is the only available treatment at this time. An international group called The Galactosemia Network recently reached agreement on a set of guidelines for dietary treatment for Classic Galactosemia.
The main points of the diet recommendations are listed below:
- Life-long galactose-restricted diet that eliminates sources of lactose and galactose from dairy products
- Galactose from non milk sources that contribute minimal dietary galactose is permitted.
- Fruits, vegetables, legumes, unfermented soy based products, mature cheese (see list below), and food additives sodium and calcium caseinate are allowed.
- Annual dietary measurement of calcium or vitamin D is recommended and supplementation is recommended if necessary.
Research suggests that despite strict dietary adherence, development, such as speech and motor, can be affected as early as pre-school age and continue into adulthood. Depending on how they are affected, children may have difficulties with communication, comprehension of new concepts, and sensory-motor integration skills.
NOTE: The information on these pages applies only to classical galactosemia. There are mild forms that may be called galactosemia variants that are not included in this section.
This information was last updated in May 2020.