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 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)
What are the symptoms? enlarged liver and vomiting enlarged liver and vomiting
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
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
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
What are the physical complications of galactosemia? Brain Damage, Inlarged Liver, Kidney Damage Brain Damage, Inlarged Liver, Kidney Damage
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
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
How do people inharite Galactosemia
Sources sited My Handout My Handout Genetic and rare Conditions Genetic and rare Conditions – Genetic Disease information Genetic Disease information –