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Best practice guide for teenagers and young people with PKU

Taking control of your life: how PKU management can help you to lead a fulfilling life

Unfortunately, Phenylketonuria (PKU) isn’t a disorder that cures over time. It’s a disorder from birth that remains with you all your life. How you choose to manage PKU now may set up patterns, which determine whether you reach your full potential.

People who stick to their low Phenylalanine (Phe) diet get the most out of life. They’re more likely to do well at school and get the job of their dreams. They’re more emotionally fit to meet everyday challenges.

Independence is worth aiming for. Isolation isn’t. Even though you’re making more and more decisions for yourself, remember that your PKU specialist is there to talk through treatment options. Your dietitian or nutritionist will be able to help you source safe food and supplements or substitute to satisfy your taste preferences and lifestyle.

No matter how busy your social life gets, you need to follow through with steps that keep you healthy.

Download your best practice guide Facing the facts of living with PKU

Also see Treatment information for teenagers and young people with PKU

Treatment information for teenagers with PKU

Find out how to achieve low Phe goals more easily.

Coping with PKU whilst being independent.

Learn more about PKU and the importance of keeping an eye on your blood Phe levels.

Neurotoxic

A substance or agent which is damaging to the brain.

Nutritionist

See dietitian/nutritionist.

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.