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Managing your life with PKU - children

child helping mother prepare meal – to convey idea that the child will learn what foods are good for him

Encouraging independence

Tips to help your child on the route to health autonomy and how to take blood samples at home.

Read tips about how to help your child manage her/his PKU treatment

Child being brought to school by parents – to convey idea that the parents can “hand out” their child to the care of others without risk

Preparing your child to enter school

How to balance family needs, and speak to your child’s new school about PKU.

Read about how to help your child adapt to his new school environment

Treatment information for children

Learn about treatment options for your child.

Learn more about PKU in children and how to help them cope.

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.