Phenylketonuria

Overview

Phenylketonuria (PKU) is an inherited disorder that prevents the body from efficiently breaking down the amino acid phenylalanine. If untreated, PKU can cause mental retardation, seizures, behavioral problems, and other serious health consequences. Treatment for PKU involves following a special diet that is low in phenylalanine and taking supplements which supply other essential amino acids. Early diagnosis and treatment is key to preventing the development of cognitive and neurological deficits associated with PKU and leading a healthy lifestyle. PKU screening is routinely performed within a few days of birth in most developed countries.

Research published in this journal

3 peer-reviewed articles, ranked by relevance. Each links to its DOI.

This page summarises published research for orientation; it is not medical or professional advice.

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