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Information about PKU for adults

adults together, as a group – to convey idea of social life

Het leven van uw dromen leiden door uw fenylalaninegehalte te beheersen

Without PKU management, high levels of Phe in the blood affect behaviour and performance at every stage of life. Making a long-term commitment to a treatment plan will enable you to reach your potential.

Read more about PKU in adults

A carrier will never have a PKU child with a non-carrier

Best practice guide for adults with PKU

Find out about the chances of passing on PKU, the role of ethnicity in genetics, and the groups that are vulnerable. The incidence of PKU varies considerably between countries.

Read best practices to help you manage your everyday life and plan for pregnancy

Facts about PKU

Frequently asked questions about PKU and treatment options.

Learn about PKU treatment options to help manage PKU and lead a satisfying life.

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

Carrier

A person who carries a gene that may cause disorder, but who does not suffer from the disorder itself. A carrier may pass on the defective gene to offspring.

Chorionic villus sampling (CVS)

A prenatal test to determine genetic disorders in the foetus, by sampling a small piece of placenta tissue.

Classic PKU

The most severe form of Phenylketonuria (PKU). People with classic PKU typically have a blood Phenylalanine (Phe) level of >1200 μmol/L when not on a Phe-restricted diet and typically tolerate less than 250–350 mg of dietary Phe a day.

Cofactor

A molecule that combines with an enzyme in order for that enzyme to function. The cofactor of Phenylalanine (Phe) is Tetrahydrobiopterin (BH4).

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.