PKUPhenylketonuria

Polly BainbridgeSamantha MillerMadison Mitchell

“PKU is an inherited metabolic disease in which the body can’t change one essential amino acid, phenylalanine, into another needed amino acid, tyrosine.”

What is PKU?

Light hair, eyes, and skin Eczema-like rash Seizures Hyperactivity Unpleasant musty/ mousy body

odor Mental retardation

Symptoms of PKU

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.

Treatments

Genetics of PKU

It is inherited from parents due to a mutated PAH (phenylalanine hydroxylase) gene on chromosome 12.

http://www.webmd.com/parenting/baby/tc/phenylketonuria-pku-treatment-overview

http://www.ygyh.org/pku/inherited.htm

Human Diseases and Conditions Vol. 3

Sources