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GALACTOSEMIA

GALACTOSEMIA. By: Matt DeBiasi and Mike Del russo. GALACTOSEMIA. Is a rare genetic metabolic disorder that affects an individuals ability to break down food and sugar called galactose ( usually found in milk and other dairy products). Symptoms.

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GALACTOSEMIA

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  1. GALACTOSEMIA By: Matt DeBiasi and Mike Del russo

  2. GALACTOSEMIA • Is a rare genetic metabolic disorder that affects an individuals ability to break down food and sugar called galactose ( usually found in milk and other dairy products).

  3. Symptoms • If an infant is breast feeding and is experiencing poor weight gain it is most likely caused by Galactocemia. • Other symptoms include: • Jaundice • Vomiting • Lethargy • Irritability

  4. Treatments • The main treatment for Galactosemia is to avoid drinking milk and all other dairy products. • It is good to eat all meat items, though this may not always help.

  5. Life time limitation • Galactosemia may cause speech and language complications. • It may also effect motor skills and cause specific learning disabilities. • All of which can become very severe.

  6. Inheritance Pattern • People with galactosemia have an autosomal recessive pattern

  7. Mutation • The arginine 188 mutation is the most common galctosemia mutation characterized to date

  8. Incidence • 2 out of every 100,000 people get galactosemia. • They find out if the if you have galactosemia right at birth.

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