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Treatment information for newborn babies with PKU

healthy newborn. To convey idea that the disorder in under control

Levels of PKU

The current practice to screen all newborns for PKU makes it extremely rare for the disorder to go undetected in industrialised countries. Usually, dietary management begins as soon as a diagnosis is made.

Discover more about the different levels of PKU and what it may mean to your child’s diet.

PKU specialist handing out a bottle to mother. to convey idea that the medical team will be there from birth to explain to parents what to do.

Managing PKU

Your PKU team will prepare a feeding plan for your newborn baby, which includes a Phenylalanine (Phe)-free formula. This special milk substitute will be the main source of nutrients for your baby and contains all the amino acids except Phenylalanine (Phe).

Find out more about what to expect in your child’s first few months of life

Seeing your baby's PKU specialist

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

Find out how to keep you baby with PKU healthy.

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.