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PKU Phenylketonuria. Polly Bainbridge Samantha Miller Madison Mitchell. What is PKU?. “PKU is an inherited metabolic disease in which the body can’t change one essential amino acid, phenylalanine, into another needed amino acid, tyrosine.”. Symptoms of PKU. Light hair, eyes, and skin
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PKUPhenylketonuria Polly Bainbridge Samantha Miller Madison Mitchell
What is PKU? “PKU is an inherited metabolic disease in which the body can’t change one essential amino acid, phenylalanine, into another needed amino acid, tyrosine.”
Symptoms of PKU Light hair, eyes, and skin Eczema-like rash Seizures Hyperactivity Unpleasant musty/ mousy body odor Mental retardation
Treatments Special diet starting a few days after birth People must limit their intake of protein in their diet for their whole lives Babies must drink a special formula without phenylalanine.
Genetics of PKU It is inherited from parents due to a mutated PAH (phenylalanine hydroxylase) gene on chromosome 12.
Sources http://www.webmd.com/parenting/baby/tc/phenylketonuria-pku-treatment-overview http://www.ygyh.org/pku/inherited.htm Human Diseases and Conditions Vol. 3