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Galactosemia in children

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Galactosemia is a rare genetic disorder that affects an individual’s ability to metabolize galactose, a sugar found in milk and dairy products. It is typically diagnosed in infancy and requires strict dietary management. Here are key points to understand about galactosemia in children:

Genetic Cause:

  • Galactosemia is caused by mutations in genes involved in the metabolism of galactose, such as the GALT, GALE, or GALK1 genes.
  • There are different types of galactosemia, including classic galactosemia (resulting from GALT gene mutations) and variants like Duarte galactosemia.

Lack of Enzyme Activity:

  • In individuals with classic galactosemia, there is a deficiency in the enzyme galactose-1-phosphate uridylyltransferase (GALT), which is needed to break down galactose into glucose for energy.

Symptoms and Diagnosis:

  • Symptoms of galactosemia may appear shortly after birth and can include:
    • Poor feeding and growth.
    • Jaundice (yellowing of the skin and eyes).
    • Vomiting.
    • Diarrhea.
    • Liver enlargement.
  • Newborn screening tests can detect galactosemia shortly after birth.

Treatment:

  • The primary treatment for galactosemia is a strict, lifelong galactose-free diet, which requires avoiding all forms of milk and dairy products.
  • Specialized infant formula and foods that do not contain galactose are used to meet nutritional needs.
  • Compliance with the dietary restrictions is essential to prevent the buildup of toxic substances in the body.

Complications:

  • Without dietary management, galactosemia can lead to serious complications, including liver damage, cognitive impairment, and potentially life-threatening infections.

Ongoing Monitoring:

  • Children with galactosemia require regular medical monitoring to ensure that their diet is effectively preventing galactose buildup.
  • Long-term follow-up helps assess growth, development, and any potential complications.

Genetic Counseling:

  • Genetic counseling is often recommended for families affected by galactosemia to understand the risk of having another child with the condition.

Dietary Management for Life:

  • Galactosemia is a lifelong condition, and dietary management must continue throughout an individual’s life to prevent complications.
  • Adolescents and adults with galactosemia must continue to adhere to the galactose-free diet.

Prognosis:

  • With strict dietary management, many individuals with galactosemia can lead healthy lives and develop normally.
  • Early diagnosis and immediate dietary intervention are essential to prevent complications.

Galactosemia is a condition that requires lifelong dietary management, and strict adherence to the galactose-free diet is crucial for the well-being of affected children. Proper management can help prevent complications and allow individuals with galactosemia to lead healthy lives.

The Pediatric.me content is provided for informational purposes only and is not intended as medical advice or as a substitute for medical advice of a physician