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Medically reviewed by Benjamin Seth Martinez | MD, Statpearls - Director of Clinical Content on December 26th, 2023.
Key Takeaways
- Three enzyme deficiencies cause different forms of this disorder: GALT deficiency (Classic Type I, most severe), GALK deficiency (Type II), and GALE deficiency (Type III), each requiring genetic testing for accurate diagnosis.
- Symptoms typically appear within the first few days of milk feeding and can rapidly progress to liver damage, cataracts, intellectual disability, and sepsis if untreated.
- Newborn screening programs can detect elevated galactose levels before symptoms appear, allowing immediate dietary intervention that prevents most serious complications.
- Complete elimination of all dairy products, legumes, and organ meats is essential since even trace amounts of galactose can cause damage—soy and hydrolyzed protein formulas are safe alternatives.
- Women with this condition face unique pregnancy challenges, as galactose can cross the placenta and potentially affect fetal development, requiring specialized prenatal monitoring.
Galactosemia is a rare metabolic disorder that affects newborns, preventing them from processing galactose, a sugar found in breast milk and formula. If left untreated, galactosemia can cause serious health problems and even be life-threatening. However, with early diagnosis and proper management, children with galactosemia can live normal lives.
What Causes Galactosemia?
Galactosemia is a hereditary condition, meaning both parents must pass down the genes responsible for the disorder. In affected babies, the genes that produce enzymes to break down galactose into glucose are missing key parts, causing galactose to build up in the blood.
There are three main types of galactosemia:
Classic (type I)
Galactokinase deficiency (type II)
Galactose epimerase deficiency (type III)
Type I is the most common, occurring in about 1 in every 30,000 to 60,000 people, while types II and III are less common.
Symptoms of Galactosemia
Newborns with classic galactosemia may appear normal at birth, but symptoms start to show up within a few days after consuming breast milk or formula containing lactose. Common symptoms include:
Loss of appetite
Vomiting
Jaundice (yellowing of the skin and whites of the eyes)
Diarrhea
Severe weight loss and failure to thrive
Without treatment, galactosemia can lead to more severe complications, such as cataracts, infections, liver damage, kidney problems, developmental disabilities, and issues with motor skills and muscles. Girls with galactosemia may also experience ovarian failure, affecting their ability to have children.
Testing and Treatment for Galactosemia
In the United States, all newborns undergo a screening test that includes checking for galactosemia. If the initial test indicates the presence of the disorder, a follow-up test using blood and urine samples will be performed to confirm the diagnosis.
Treatment for galactosemia involves eliminating lactose and galactose from the child's diet. This means replacing breast milk or regular formula with soy-based formula and avoiding milk or milk byproducts. In some cases, certain fruits, vegetables, and candies containing galactose may also need to be restricted.
Children with galactosemia may require vitamin and mineral supplements, such as calcium, vitamin C, vitamin D, and vitamin K. Regular check-ups with a healthcare team, including a specialist, are essential to monitor the child's growth and development and address any potential complications.
Milder Forms of Galactosemia
Some babies may have milder forms of galactosemia, such as Duarte galactosemia (DG) or types II and III. While these forms still require monitoring, they may not always necessitate strict dietary changes. For example, recent research suggests that babies with DG may continue breastfeeding or consuming formula with galactose without significant issues.
Living with Galactosemia
Although individuals with galactosemia will never be able to process galactose, they can live normal lives with early diagnosis and proper management. Parents of children with galactosemia should work closely with their healthcare team to develop a comprehensive care plan that addresses dietary restrictions, supplements, and any potential complications.
For more information on galactosemia, consult the following resources:
The Bottom Line
Early detection through newborn screening and immediate galactose elimination can prevent devastating complications including liver failure and brain damage. Parents must maintain strict dietary vigilance throughout their child's life, reading all food labels and working with dietitians familiar with this rare condition. If your newborn shows signs of feeding intolerance, vomiting, or jaundice, Doctronic can help you quickly connect with specialists who understand metabolic disorders.
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