How to Identify the Risk Factors for PKU

By eHow Health Editor

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Phenylketonuria, abbreviated to PKU, is a genetic disorder inherited from both parents. It is characterized by the absence or deficiency of an enzyme needed to process and metabolize the essential amino acid known as "phenylalanine." Because amino acids are the basic constituents of protein, physical and mental developmental abnormalities can result from untreated or severe cases of PKU.

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Instructions

Difficulty: Moderately Challenging

Step1

Realize that the risk factors for PKU are genetic in origin. Both the mother and father of a child must have and pass along a PKU gene that has mutated into a dominant form. If only one parent carries the gene that causes PKU to develop in infants, it is not possible for your child to be born with PKU.

Step2

Identify risk factors based on racial ancestry. PKU is extremely rare in both Asian and black people. People of Caucasian heritage, specifically Northern European heritage, are the main carriers of the gene that causes PKU to develop in children.

Step3

Have yourself tested if you are planning to become a parent and you want to identify whether or not you carry the mutated PKU gene that will pass the disorder along to your child. If you are positive for the gene, have your partner tested as well. Understand, though, that even if both parents prove positive for the gene that causes PKU, this does not necessarily mean that your child will be born with the disease.

Step4

Remember that a mother who has PKU won't necessarily pass the disease on to her unborn child, but if she does not take care to observe the proper PKU diet during pregnancy, her child may suffer some impairment. The PKU diet is very strict, aiming to minimize or eliminate the intake of phenylalanine, which is found primarily in proteins.

Step5

Receive detailed advice from a physician if your newborn baby tests positive for PKU. You will have to learn how to limit and track your child's phenylalanine intake, as well as how to safely identify substitutes for the essential amino acid your child can't metabolize. While some doctors may tell you that the PKU diet must be followed until your child reaches adolescence, it is safer if the patient strictly follows the PKU diet his entire life.

Tips & Warnings

Have your infant screened for PKU within days of birth if possible. Undetected and untreated PKU will lead to serious and irreversible brain damage and mental retardation within the first few months of your child's life.