GALACTOSEMIA

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GALACTOSEMIA
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.