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Levels of PKU

healthy newborn. To convey idea that the disorder in under c ontrol

By now, you have a basic understanding of Phenylketonuria (PKU):

The knowledge that it’s an inherited disorder.
That Phenylalanine (Phe), which accumulates in the blood and the brain via food proteins, must be controlled.
That management is achieved through a special diet.

What you may not know, however, is whether your child has mild, moderate or classic PKU, although in some countries, classifications of mild and moderate PKU are grouped together.

A diagnosis of mild, or moderate PKU (also known as variant PKU) means your child has lower blood Phenylalanine (Phe) level than a person with classic PKU. All three types of PKU can result in neurological damage if blood Phe levels are not kept low. However children with mild or moderate PKU may be able to follow a more relaxed diet. Your PKU specialist will be able to advise you about your child’s individual Phe target.

See Establish your blood Phenylalanine (Phe) range

About PKU for newborn babies

Find out how to keep you baby with PKU healthy.

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

Frequently asked questions about PKU and treatment options.

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.