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Galactosemia By Nate and Dj. What is Galactosemia? Galactose in the blood Galactose in the blood This is found mainly in dairy products This is found.

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Presentation on theme: "Galactosemia By Nate and Dj. What is Galactosemia? Galactose in the blood Galactose in the blood This is found mainly in dairy products This is found."— Presentation transcript:

1 Galactosemia By Nate and Dj

2 What is Galactosemia? Galactose in the blood Galactose in the blood This is found mainly in dairy products This is found mainly in dairy products Milk has a sugar called lactose Milk has a sugar called lactose Galactose needs to be broken down by a specific enzyme (GALT) Galactose needs to be broken down by a specific enzyme (GALT)

3 What are the symptoms? enlarged liver and vomiting enlarged liver and vomiting

4 Is Galactosemia a dominant or recessive inheritance? Galactosemia is a recessive gene (both parents have to be carriers) Galactosemia is a recessive gene (both parents have to be carriers) 1 in 50,000 people have it 1 in 50,000 people have it

5 What is a treatment for Galactosemia? What is a treatment for Galactosemia? Many people need receive therapy for their speech Many people need receive therapy for their speech –and their learning disabilities Not eating dairy products Not eating dairy products

6 Is galactosemia a sex- linked Gene? No!! it’s not a sex linked Gene No!! it’s not a sex linked Gene –It is autosomal

7 What are the physical complications of galactosemia? Brain Damage, Inlarged Liver, Kidney Damage Brain Damage, Inlarged Liver, Kidney Damage

8 Life Expectancy If treated could live till you die of old age If treated could live till you die of old age If not treated could die 1 day If not treated could die 1 day

9 Statistics Classic galactosemia 1 in 30,000 live births Classic galactosemia 1 in 30,000 live births Mild galactosemia 1 in 16,000 live births Mild galactosemia 1 in 16,000 live births

10 How do people inharite Galactosemia

11 Sources sited My Handout My Handout Genetic and rare Conditions Genetic and rare Conditions –www.kumc.edu Genetic Disease information Genetic Disease information –www.ornl.gov


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