Galactosemia in Children: Symptoms, Risks, and Dietary Management

Q: Galactosemia in Children: Symptoms, Risks, and Dietary Management

Hello： The most common cause is the lack of the enzyme (galactose-1-phosphate uridyl transferase) required for lactose metabolism in affected children, which prevents them from converting ingested lactose into glucose. <br>The incidence provided by the Department of Health is app

Galactosemia is a genetic metabolic disorder that affects the body's ability to process galactose, a sugar found in milk and dairy products. Individuals with galactosemia lack the

Hello, doctor.
My child was recently screened and suspected to have galactosemia, and also has a history of allergies.
His breathing sounds are quite loud.
To prevent any issues, I have purchased a special formula for him.
Since he does not have any clinical symptoms, his weight is normal, and his energy levels are still good, the only concern is that after returning from the hospital, he may have cried a lot, which left him feeling weak that night.
If the screening confirms the diagnosis, what would be the most severe long-term complications? What should we do to prevent issues in the meantime? Additionally, which type of formula or methods can help improve my child's allergic condition, especially regarding his respiratory health? Thank you.

Chong Yao, 20~29 year old female. Ask Date: 2006/03/03

Dr. Pei Rensheng reply Pediatrics

Hello: The most common cause is the lack of the enzyme (galactose-1-phosphate uridyl transferase) required for lactose metabolism in affected children, which prevents them from converting ingested lactose into glucose.
The incidence provided by the Department of Health is approximately 1 in 210,000.
At birth, there are often no specific symptoms, but after a few days of breastfeeding, symptoms such as vomiting, lethargy, slow weight gain, hepatomegaly, and jaundice may occur.
This condition can even lead to cataracts, cirrhosis, and brain damage.
If detected early through screening shortly after birth, switching to a lactose-free formula (such as soy milk) can prevent these complications.

Symptoms of galactosemia:
1.
At birth, there are often no specific symptoms, but after a few days of breastfeeding, vomiting and lethargy may occur.
Subsequently, there is no weight gain, hepatomegaly, and jaundice appears.
2.
In milder cases, symptoms may include growth and developmental delays, intellectual disability, cataracts, and cirrhosis.
3.
Severe cases may result in death due to malnutrition and failure to thrive.
Principles of treatment for galactosemia:
1.
Avoid foods containing galactose (such as breast milk, cow's milk, and dairy products).
2.
Infants should be switched to special formula milk (such as soy milk).
3.
Ensure adequate supplementation of calcium, vitamin B2, and vitamin D.
Sincerely, Dr.
Pei Ren-Sheng, Pediatrics.

Reply Date: 2006/03/03

More Info

Galactosemia is a rare genetic disorder that affects how the body processes galactose, a sugar found in milk and dairy products. When a child has galactosemia, their body lacks the enzyme needed to break down galactose, leading to a buildup of this sugar in the blood, which can cause serious health issues if not managed properly.

Symptoms and Risks
The symptoms of galactosemia can vary, but they often include:
- Jaundice: Yellowing of the skin and eyes.

- Vomiting: Frequent vomiting after consuming milk or dairy products.

- Diarrhea: Loose stools, which can lead to dehydration.

- Failure to thrive: Poor growth and weight gain.

- Liver damage: This can occur if galactose levels remain high for an extended period.

- Cognitive impairment: If not managed, galactosemia can lead to developmental delays and intellectual disabilities.

In your case, since your child has been screened and is showing no clinical symptoms, it is a positive sign. However, it is crucial to follow up with a healthcare provider for confirmatory testing and to discuss dietary management.

Dietary Management
The primary treatment for galactosemia is a strict diet that eliminates all sources of galactose. This includes avoiding:
- Breast milk and formula containing lactose: Most infant formulas contain lactose, which is broken down into glucose and galactose. You should consult with a pediatric nutritionist to find a suitable lactose-free formula.

- Dairy products: Milk, cheese, yogurt, and other dairy products must be completely avoided.

- Certain fruits and vegetables: Some may contain galactose, so it’s essential to consult with a dietitian.

For children with galactosemia, soy-based formulas or specialized formulas that do not contain lactose or galactose are often recommended. It is essential to ensure that the formula you purchased is appropriate for children with galactosemia.

Allergies and Respiratory Issues
Regarding your child's allergic tendencies and respiratory issues, it is essential to identify specific allergens that may be affecting them. Common allergens include:
- Dust mites
- Pollen
- Pet dander
- Certain foods
Consulting with an allergist can help determine specific triggers and develop a management plan. For respiratory issues, maintaining a clean environment, using air purifiers, and avoiding exposure to known allergens can be beneficial.

Long-term Management and Follow-up
If your child is confirmed to have galactosemia, regular follow-ups with a metabolic specialist are crucial. They can monitor your child's growth, development, and dietary adherence. Early intervention and strict dietary management can significantly reduce the risk of severe complications associated with galactosemia.

Conclusion
In summary, if your child is diagnosed with galactosemia, the most severe consequences can include liver damage, cognitive impairment, and growth issues. The key to managing this condition is strict adherence to a galactose-free diet, regular medical follow-ups, and monitoring for any allergic reactions or respiratory issues. Always consult with healthcare professionals, including pediatricians, dietitians, and allergists, to ensure your child's health and well-being.

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