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Some individuals with mild PAH deficiency are able to tolerate a normal diet and do not require treatment. The prevalence of PAH deficiency is 1 in 10, in Caucasians, and it is more common in individuals of Turkish and Irish descent. The degree of enzyme deficiency varies among people with PAH deficiency, and therefore the treatment must also be individualized based on the levels of phenylalanine in the blood.

An infant with any form of PAH deficiency should be evaluated immediately after birth to determine whether or not he or she requires treatment.

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A blood test can reveal the amount of functioning phenylalanine hydroxylase in the body, and this will indicate the amount of phenylalanine the person can safely consume. While individuals with classic PAH deficiency must adhere to a strict low-phenylalanine diet, others with milder forms can safely consume small amounts of the amino acid, and for some, treatment may not even be necessary. Generally speaking, a diet low in protein and free from phenylalanine is important in preserving mental function in a person with classic PAH deficiency.

Phenylalanine-free formulas are available for infants. Maintaining appropriate levels of phenylalanine in the brain can be achieved through blood testing and diet adjustment. This must be closely supervised by medical professionals. In most cases, this special diet must be maintained for life.

Individuals with any form of PAH deficiency should avoid consuming aspartame, an artificial sweetener containing phenylalanine. Women with PAH deficiency who become pregnant must be particularly careful to maintain safe levels of phenylalanine in their bodies to avoid birth defects in their children.

The metabolic dietitian will create individual eating plans and modify them as needed to promote healthy growth and development. The diet needs to be followed for life.

Phenylketonuria - NHS

Get help with menu planning from the metabolic dietitian and plan ahead for eating out, school lunches, potlucks, trips and vacations, and other special events. Try to center special occasions around activities rather than food, and encourage your child to be part of the management of his or her diet as early as possible. Need serious help making a plan? The nutrition experts in our professional membership are ready to help you create the change to improve your life. Geneticists sequenced the genome of macaques in Their investigations found "some instances where the normal form of the macaque protein looked like the diseased human protein" including markers for PKU.

The stereoisomer D -phenylalanine DPA can be produced by conventional organic synthesis , either as a single enantiomer or as a component of the racemic mixture. It does not participate in protein biosynthesis although it is found in proteins in small amounts - particularly aged proteins and food proteins that have been processed.

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The biological functions of D -amino acids remain unclear, although D -phenylalanine has pharmacological activity at niacin receptor 2. DL -Phenylalanine DLPA is marketed as a nutritional supplement for its purported analgesic and antidepressant activities. DL -Phenylalanine is a mixture of D -phenylalanine and L -phenylalanine.

The reputed analgesic activity of DL -phenylalanine may be explained by the possible blockage by D -phenylalanine of enkephalin degradation by the enzyme carboxypeptidase A. Elevated brain levels of norepinephrine and dopamine are thought to have an antidepressant effect. D -Phenylalanine is absorbed from the small intestine and transported to the liver via the portal circulation.

How to Create a PKU-Friendly Diet

A small amount of D -phenylalanine appears to be converted to L -phenylalanine. D -Phenylalanine is distributed to the various tissues of the body via the systemic circulation. It appears to cross the blood—brain barrier less efficiently than L -phenylalanine, and so a small amount of an ingested dose of D -phenylalanine is excreted in the urine without penetrating the central nervous system. L -Phenylalanine is produced for medical, feed, and nutritional applications, such as aspartame , in large quantities by utilizing the bacterium Escherichia coli , which naturally produces aromatic amino acids like phenylalanine.

The quantity of L -phenylalanine produced commercially has been increased by genetically engineering E. Boronophenylalanine BPA is a dihydroxyboryl derivative of phenylalanine, used in neutron capture therapy. From Wikipedia, the free encyclopedia. Phenylalanine L -Phenylalanine. S Aminophenylpropanoic acid. CAS Number. Interactive image Zwitterion : Interactive image. PubChem CID. Chemical formula. Structure and properties.

Spectral data. Biosynthetic pathways for catecholamines and trace amines in the human brain [8] [9] [10]. L -Phenylalanine.

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L -Tyrosine. L -DOPA.

N -Methylphenethylamine. N -Methyltyramine.

Symptoms of PKU

Main article: Phenylketonuria. Data for Biochemical Research. Oxford: Clarendon Press. Archived from the original on 9 October Retrieved 5 March A Dictionary of Applied Chemistry.