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Treatment information for adults with PKU

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Finding a lifestyle that lets you live: the challenge of controlling blood Phenylalanine (Phe) levels

To many people with PKU, diet management represents a challenge. The nature of the disorder means that there is no simple, universal treatment because blood Phenylalanine (Phe) targets vary according to individual tolerance.

In this section, learn more about medication that may help you achieve a more flexible PKU treatment program.

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Planning for pregnancy and a healthy baby

Understand why your blood Phenylalanine (Phe) levels need to be low and stable before becoming pregnant and the risks of an unplanned pregnancy. If you have PKU and are planning a family, you need to take action immediately to give your child a healthy start to life.

Learn what you need to do to give your baby the best chance of being born healthy and why you need to begin before conception.

Tips and tools for adults

Find easy ways to manage PKU and keep your Phe levels low.

Download a list of useful questions to ask at your next visit.

PAH (Phenylalanine Hydroxylase)

An enzyme which works together with Tetrahydrobiopterin (BH4) to convert Phenylalanine (Phe) to Tyrosine (Tyr) in the liver. A deficiency in PAH results in high Phenylalanine levels in the blood, which is the biochemical hallmark of Phenylketonuria (PKU).

Phenotype

An observable characteristic or trait of an organism. Phenotypes result from the expression of an organism’s genes as well as the influence of environmental factors.

phenylalanine (Phe) tolerance

The quantity of Phe a patient may consume without a significant increase in her or his target blood Phe levels. Usually expressed as daily intake.

Phenylalanine (Phe)

A building block of protein, and one of the 10 essential amino acids. An inability to metabolize excess phenylalanine is the characteristic feature of Phenylketonuria (PKU). When the blood concentration of Phenylalanine exceeds what is considered a healthy level, excess amounts may build up in the brain, causing mental retardation.

Phenylalanine Hydroxylase

See PAH.

Phenylketonuria

See PKU.

PKU (Phenylketonuria)

An inherited metabolic defect in protein metabolism. In PKU, the Phenylalanine Hydroxylase (PAH) enzyme is unable to convert Phenylalanine to Tyrosine, resulting in a build-up of Phenylalanine (Phe) in the blood that eventually passes into the brain, causing mental retardation and other neurological problems.

Protein

A type of molecule produced by the body from Amino acids.