Intro: Phenylketonuria (pku) is an inherited disorder that, left untreated, changes in cells inside the brain and leads to mental retardation. This dramatic change in behavior can be traces to a tiny mutation in a single gene on chromosome 12.
How it is Inherited: PKU is not a contagious disease but an inherited disorder. Inheritanceof pku starts with the parents. Each parent has two PAH (phenylalanine hydroxlase) genes, one on each chromosome 12 one of their genes is mutated ( as represented by the red chromosome)
How is it diagnosed: Most babies in the united states and many other countries are screened soon after birth for high levels of phenylalanine in their blood. in the initial step, the doctor pricks the heel or hand of the newborn and collects a few drops of blood on a piece of filter paper (a.k.a gut hire cards.)
What its like living with it: If you have Pku eating can be a problem for you they can eat things like dairy products meat, fish chicken eggs beans and nuts these foods cause high blood phe levels for people with pku
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