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Understanding who you are: achieving better PKU management

Learn how it’s possible to be healthy and enjoy life to the full by managing your blood Phe levels treatment, which has been adapted to suit your lifestyle.

Also see The science of PKU for a medical explanation of PKU and to learn about the importance of managing blood Phenylalanine (Phe) levels.

Preparing to see your PKU specialist for teens

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

Find out how to achieve low Phe goals more easily.

Frequently asked questions about PKU and treatment options.

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.