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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 intellectual disability.

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About this article

Author: Dr Idan Ben-Barak PhD, MSc, BSc (Med)
First answered: 07 Oct 2014
Last reviewed: 14 May 2019
Rating: 4.3 out of 5
Votes: 785 (Click smiley face below to rate)
Category: Fetal alcohol syndrome

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