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PKU directory

Healthcare professionals, dietitians and nutritionists

Look in your area for a clinic, a PKU specialist or a dietitian or nutritionist close to home.

Search for clinics and dietitians or nutritionist in your area

Food, supplement or substitute & formula suppliers

Find the addresses, phone numbers and websites of low-Phe food suppliers and formula providers in your region.

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PKU websites & PKU associations

Check PKU-related websites, including blogs and forums, and stay in touch with the PKU community. You will also find a list of associations active in PKU and other similar disorders.

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Seeing your baby's PKU specialist

Find out what to expect during your first paediatric visit and download questions for your PKU specialist.

Keep up to date with treatment options to help manage 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.