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FAQ Frequently asked questions
What causes phenylketonuria?
Phenylketonuria is caused by a gene mutation. The body of a person born with PKU is unable to break down phenylalanine, an important substance in human metabolism. As a result, phenylalanine accumulates in the body and can lead to the person developing an …
Who gets phenylketonuria?
Phenylketonuria is an inherited condition. A person with phenylketonuria gets the mutated gene copies from their parents.
How is phenylketonuria diagnosed?
Phenylketonuria is normally diagnosed in the days after birth with a newborn screening blood test (heel prick test).
How is phenylketonuria treated?
Phenylketonuria is treated with a special diet very low in phenylalanine.
Can phenylketonuria be cured?
Phenylketonuria cannot be cured at present; the condition is permanent and requires lifelong management.
Can phenylketonuria be prevented?
Phenylketonuria is genetic and manifests at birth. The symptoms of phenylketonuria can be prevented by following a special phenylalanine-restricted diet.
Are there different types of phenylketonuria?
Phenylketonuria can show up as mild, moderate or severe, depending on the specific mutation of the PAH gene.
About this article
Author: Dr Idan Ben-Barak PhD, MSc, BSc (Med)
First answered: 14 Oct 2014
Last reviewed: 19 May 2018
Rating: 4.0 out of 5
Votes: 397 (Click smiley face below left to rate)