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Published byHector Park Modified over 9 years ago
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By: Matt DeBiasi and Mike Del russo
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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).
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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
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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.
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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.
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Inheritance Pattern People with galactosemia have an autosomal recessive pattern
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Mutation The arginine 188 mutation is the most common galctosemia mutation characterized to date
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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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