Galactosemia
- Home
- Pediatric Liver Disease
- Galactosemia
Overview
Galactosemia is an inherited metabolic disorder that prevents the body from properly processing galactose, a sugar found in many foods. Galactose is also a component of lactose, the sugar present in all dairy products.
Normally, when a person consumes lactose, the body breaks it down into glucose and galactose. In individuals with galactosemia, galactose accumulates in the blood because the body lacks the enzymes needed to process it. This buildup can lead to serious complications including an enlarged liver, kidney failure, cataracts, and brain damage. If left untreated, galactosemia can be fatal in infancy.
There is a milder variant called Duarte galactosemia, which generally does not cause the severe complications associated with classic galactosemia. Dietary management for Duarte galactosemia remains a topic of discussion, so consultation with a healthcare professional is recommended.
What Are the Symptoms of Galactosemia?
Galactosemia usually shows no symptoms at birth. However, within the first few weeks, affected infants may develop:
- Jaundice (yellowing of skin and eyes)
- Diarrhea and vomiting
- Failure to gain weight and poor feeding
Even with early dietary treatment, some children may experience long-term complications such as speech and language delays, motor skill challenges, learning disabilities, and in girls, ovarian failure.
The most common cause, as it significantly reduces the liver’s ability to function.
Sudden loss of liver function due to factors like viral hepatitis, drug overdose, or toxins.
High blood pressure in the liver can lead to the diversion of blood around the liver, allowing toxins to bypass detoxification.
Bleeding in the intestines can increase the amount of toxins that the liver must process.
Infections, especially bacterial infections in people with liver disease, can trigger or worsen HE.
Imbalances in sodium, potassium, and other electrolytes may also contribute to HE development.
What Causes Galactosemia?
Galactosemia is usually diagnosed in the first week of life through routine newborn screening blood tests taken from a heel prick.
How is Galactosemia Treated?
The primary treatment is a strict lifelong exclusion of lactose and galactose from the diet. Individuals with galactosemia cannot properly digest foods containing galactose as there is currently no medication or enzyme replacement available.
Infants diagnosed with galactosemia are switched to special formulas free of galactose. With early and careful management, most children with galactosemia can lead healthy, normal lives.
If My Child Has Been Diagnosed, What Should I Ask My Doctor?
- What specific dietary restrictions should my child follow?
- How do we monitor for potential complications?
- Are there any recommended supplements or therapies?
- What is the outlook for my child’s development and health?
Who is at Risk for Galactosemia?
Galactosemia is inherited in an autosomal recessive manner. Both parents must be carriers of the defective gene for a child to be affected. Each pregnancy between two carriers has:
- A 25% chance of resulting in a child with galactosemia
- A 50% chance the child will be a carrier without symptoms
- A 25% chance the child will inherit normal genes
How Can Liver Transplantation Portal Help You?
At Liver Transplantation Portal, we provide expert guidance and connect families affected by galactosemia to specialized hepatologists and care centers. We support you throughout diagnosis, management, and advanced care options, including liver transplantation if needed.
Why Choose Liver Transplantation Portal?
We are committed to offering compassionate, expert care and support for rare metabolic liver disorders like galactosemia. With our network of top specialists and transplant centers, Liver Transplantation Portal helps you access the best resources and life-saving treatments tailored to your child’s needs.
Contact us today to learn more about galactosemia and how we can assist you in managing your child’s liver health.