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Managing PKU

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

Usually, babies are allowed to breastfeed after the Phenylalanine (Phe)-free formula has been given. As time goes by, the amount of formula will be adjusted and your baby will receive regular blood tests to monitor Phenylalanine (Phe) levels. The frequency of these tests will vary as babies grow. Tests tend to take place more often while children are in the early developing stages.

With time, your child will be introduced to a controlled, low-Phe diet, which excludes meat, fish, eggs and dairy, nuts and seeds, foods high in Phe, and consists of mainly fruits and vegetables. Later on, he/she can eat a wider range of special bread and pasta. Each stage will be accompanied by a special Phe-free supplement or substitute, which must be prepared daily.

Your PKU team will also monitor your child’s weight and height so his/her growth pattern can be assessed. A clinical psychologist will perform psychometric tests routinely to confirm your child is reaching developmental targets.

To learn what to expect during the toddler years, see PKU treatment information for children

Guide to raising a newborn baby with PKU

A guide to the early months including answers to questions about your new baby’s health.

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

Receive the latest information about PKU, treatment options and tips on how to manage your family and social life.

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.