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Finding a lifestyle that lets you live: the challenge of controlling Phenylalanine (Phe) levels

adults lifestyle / social life. to convey successful / fulfilling professional and social life

The purpose of keeping blood Phenylalanine (Phe) levels low through dietary management and treatment is not only to minimise brain dysfunction but to maximise personal performance. For many people, that goal requires great sacrifice. Strict adherence to a low-Phenylalanine (Phe) diet can be a burden that has a daily impact in terms of convenience and quality of life.

Your family may share your sense of isolation. Meals are repetitive and social occasions lack some of the pleasure that comes with dietary freedom. In addition, dietary restrictions may lead to nutritional deficiencies, which are felt more keenly at particular stages in life. For example, it’s harder to manage your diet during periods of stress, if you’re starting a new job, welcoming a child into the family, or feeling the advance of age.

Weighing the advantages and disadvantages of PKU diet management

PROS AND CONS OF DIETARY MANAGEMENT OF PKU
Strict dietary management	Relaxed dietary management
Lower blood Phe levels leading to emotional stability, better concentration, higher energy levels Limitation in social activities due to restricted food range Nutritional deficiencies, limited food range Indefinite cognitive health Healthy state to launch pregnancy General wellbeing	Higher blood Phe levels leading to emergence of anxiety, depression, phobias Social inclusion; pleasure from food Impaired thinking, poor concentration Downward cognitive spiral Grave risk to unborn child’s wellbeing Tremors, eczema, headaches

Some people 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.

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.

Questions you may have about PKU

Despite having lived with PKU for many years, every stage of life presents new challenges. It may be time to revisit your PKU specialist to review your disorder management strategy.

Your PKU specialist will be able to advise what would be the best PKU management program for you. You may like to download this list of questions to add to your own.

Tips and tools for adults

Find easy ways to manage PKU and keep your Phe levels low.

Best practices guide for adults with PKU

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.