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How is phenylketonuria diagnosed?

Phenylketonuria is normally diagnosed in the days after birth with a newborn screening blood test (heel prick test).

FAQ Frequently asked questions

What is phenylketonuria?

Phenylketonuria, or PKU, is a rare inherited disorder. 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 …

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 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.

Is phenylketonuria contagious?

Phenylketonuria is not contagious.

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.

How common is phenylketonuria?

Phenylketonuria is a rare condition. It appears in about one in every 15,000 newborn babies and there are about 50,000 people worldwide living with the condition.

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About this article

Author: Dr Idan Ben-Barak PhD, MSc, BSc (Med)
First answered: 07 Oct 2014
Last reviewed: 19 May 2018
Rating: 4.8 out of 5
Votes: 13 (Click smiley face below to rate)
Category: Fetal alcohol syndrome

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