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• 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

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.

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.

Inheritance Pattern

• People with galactosemia have an autosomal recessive pattern

Mutation

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

Incidence

• 2 out of every 100,000 people get galactosemia.

• They find out if the if you have galactosemia right at birth.