This happens because a necessary enzyme, phenylalanine hydroxylase, is deficient.
Because of this, phenylalanine builds up in the bodys cells and causes nervous system damage.
Phenylketonuria is a treatable disease that can easily be detected by a simple blood test.
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(Screening for PKU in premature babies is different and more difficult for several reasons.)
If PKU is present, the level of phenylalanine will be higher than normal in the blood.
At first, a special low-phenylalanine infant formula (Lofenalac) is used.
Individuals must remain on a phenylalanine-restricted diet during childhood and adolescence.
Some individuals are able to reduce their diet restrictions as they grow older.
Monitoring
As noted, blood tests are used to monitor people with PKU.
Sometimes a limit as high as 600 uM is allowed for older adults.
Phenylalanine levels may continue to affect the brain during the teen and adult years.
In fact, higher than recommended phenylalanine levels in these years may result in a lower IQ.
Role of Genetics
PKU is a genetic disorder that is passed down from parents to children.
To have PKU, a baby has to inherit a specific gene mutation for PKU fromeachparent.
Coping
Coping with PKU is difficult and requires great commitment since it is a life-long endeavor.
Frequently Asked Questions
No.
Phenylketonuria is a lifelong condition.
However, complications such as intellectual disabilities can be prevented with a proper diet.
2014;9(3):142-148. doi:10.1089%2Fbfm.2013.0092
National Human Genome Research Institute.About Phenylketonuria.
(Epub ahead of print).
(Epub ahead of print).
2014;16(2):188-200.
