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Information about PKU for families with children

Help your child understand PKU and his/her special needs

Map your child’s route to healthy independence as your family learns what it means to live with PKU.

As your child’s language skills develop, help him/her understand the importance of his/her dietary difference and how to participate in PKU management even now.

Read more about PKU and your child

Best practice guide for children with PKU

Help your child become aware of his/her special dietary needs throughout the early developmental stages. Learn more about how to set your child on the pathway to healthy self-management.

Find out best practices to help your child manage PKU.

Facts about PKU

Frequently asked questions about PKU and treatment options.

Learn about treatment options for your child.

Help your child manage everyday life and download useful tools.

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.