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.

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Presentation transcript:

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.