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MR. S.

on 3 April 2016

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Transcript of PKU

Eliza Fries
Genetic Disorder Project
What is PKU
PKU stands for Phenylketonuria and is a birth defect that causes an amino acid called phenylalanine to build up in the body.
What Causes PKU ?
PKU is caused by a genetic mutation.
Chromosome 12 is affected by this disorder
Medical Assistance

Medical assistance for PKU includes having patients follow a strict diet and eating other fats to make up for the ones that the patient needs.
Are there any treatments or cures,and can this disease even be treated?
Children may be treated, but not cured
PKU can be prevented by the mother by keeping a strict diet
people with PKU can still have children in the future, but risk being a carrier or having PKU if both parents have it
Doctors are still looking for cures
What are the symptoms of PKU ?
increased levels of phenylalanine
if not treated at an early age, children may develop a permanent intellectual disability, Rashes, seizures, or tremors
people all ages will have to follow a diet
there are no prenatal tests for this disorder
How much of our population is affected by PKU ? Can anyone get PKU ?
PKU is very rare
1 newborn in every 50,000 affected
20,000 cases a year
PKU is an inherited disease
PKU is less common in African Americans
it is inherited in a autosomal recessive pattern
Works Cited

Genetics Home Refrence.Phenylketouria.Genetics Home Reference.February, 2012. Wednesday March 16, 2016.
Mayo Clinic. Diseases and conditions Phenylketonuria . Mayo Clinic. November 26, 2014. Wednesday March 16, 2016.
Department of pediatrics. Featured Stories. Department of Pediatrics. 2016. Wednesday March 16, 2016.
MedicneNet.com PKU. Phenylketonuria. MedicineNet. Wednesday March 16, 2016.

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