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Shortcuts to success: Phenylalanine (Phe) level management

teenager lifestyle. To convey idea that treatment can be less intrusive than what they might think.

At times, deciding what to eat, remembering to calculate protein in food and mixing your supplement or substitute may feel like a total bore. There are so many things you’d rather be doing. But by now, you know a lot about Phenylketonuria (PKU) and the way it affects your performance and your moods. It’s the reason you watch what you eat and maintain a low protein diet.

Consider that:

The key thing is your supplement or substitute, which you need to take two or three times a day, ideally with every meal.
Include plenty of fruit and vegetables in your diet as well as vitamin, mineral and Tyrosine supplements or substitutes if recommended.
Count your protein intake.
Watch your intake of sugar and salt and drink plenty of water.
Make time for breakfast and avoid eating the wrong stuff by keeping low-Phenylalanine (Phe) snacks at hand.

Sometimes it feels the sacrifice is too great. Meals are repetitive and there’s none of the pleasure of dietary freedom enjoyed by your friends. But now that you’re older, take half an hour to sit down with your PKU specialist and sort out the options that could make your treatment plan work.

Some people, and some children from the age of four years, may also benefit from Sapropterin Dihydrochloride (also known as BH4), a prescription drug approved in the European Union, Liechtenstein, Norway, Iceland, Switzerland, the United States and Japan. The medication functions exactly like BH₄, a substance found naturally in the body, which ultimately helps the body break down Phe by making the defective Phenylalanine Hydroxylase (PAH) enzyme more active.

Owing to the many different defects possible in the PAH enzyme, not all people with PKU will be responsive. Ask your PKU specialist for advice.

The full range of treatment options include:

Phe free food.
Supplements or substitutes (including LNAA).
Medication.

Ask your PKU specialist for a personalised treatment management program.

Make sure of your PKU facts

With self-determination comes increasing management of your disorder. As you take on more responsibility for your wellbeing, you may want to check in with your PKU specialist to make sure you’re on track.

Up until recently, your parents have taken most decisions about your health. As the balance of responsibility shifts, there may be questions you want to ask your PKU specialist. You may like to download this list to add to your own.

Tips and tools for teenagers

Coping with PKU whilst being independent.

Learn why it’s important to remain committed to your diet whilst being independent.

Frequently asked questions about PKU and treatment options.

Large neutral amino acids (LNAA):

Large neutral amino acids (LNAA) may also be used in therapy for PKU. LNAA, taken in tablet form, compete with Phe for transport across the blood-brain barrier, reducing the concentration of Phe in the blood.

Eczema

A skin condition which causes the skin to appear red, swollen and itchy.

Enzyme

A kind of biological molecule that facilitates certain chemical reactions inside the body. People with Phenylketonuria (PKU) lack a certain enzyme called Phenylalanine Hydroxylase (PAH).

BH4 (Tetrahydrobiopterin)

An enzyme cofactor that works together with Phenylalanine Hydroxylase to convert Phenylalanine to Tyrosine in the liver. Without the action of both Phenylalanine Hydroxylase and Tetrahydrobiopterin, the chemical process cannot take place, resulting in an accumulation of excess phenylalanine.

BH4 deficiency

A deficiency of the naturally produced BH4 cofactor, caused by mutation in one or more of the enzymes involved in synthesis or regeneration. BH4 deficiency is not the same disorder as Phenylketonuria (PKU).

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.