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About PKU for your newborn baby

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Enjoying life with your newborn baby

An introduction to the disorder for families whose baby has been recently diagnosed with Phenylketonuria (PKU).

News that your newborn has PKU may at first seem overwhelming and confusing. Most people are unfamiliar with the disorder and wonder what makes their child different to others.

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Best practice guide to raising a newborn baby

A guide to the early months that covers questions about your new baby’s diet, breastfeeding and the introduction of solids, including a list of do’s and don’ts.

Find out the best practices to raise your newborn baby with PKU

Facts about PKU

Frequently asked questions about PKU and treatment options.

Learn about the treatment options for your newborn baby

Manage your everyday life with your newborn baby and download special tips.

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.