Abstract
Phenylketonuria (PKU) is a rare inherited condition in which there is a build up of phenylalanine in the body. PKU is looked for in all newborns in the UK by measuring phenylalanine levels in the heel-prick blood test and all babies should have this test as it allows treatment to start early in life. The needs of female patients are of particular importance because of the associated risks of pregnancy in the untreated mother with PKU. This article outlines the diagnosis and management of PKU, and some considerations for parents and women with the condition who are planning to concieve.
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