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The infant must be evaluated and, if necessary, treated in conjunction with a metabolic team that should include at the least a
metabolic physician and a specialist metabolic dietician. The evaluation will include confirmatory testing to determine the
degree of PKU and additionally to determine whether the increased phenylalanine level might be secondary to a pterin defect.

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If the original result was strongly positive and repeat testing comes back normal, it will be important to confirm the normality in
the repeat test with another specimen from the baby, since it is unusual for a strongly positive test to be transient. If the
original result was mild or only borderline, however, a normal repeat test may be considered as valid. It is essential to inform
the family as soon as possible if the result is normal. Many families are only informed of results indicating disease and remain
anxious and believing their child is affected unless SPECIFICALLY informed otherwise as soon as the test result so indicates. In
some cases there remain stresses related to the false positive test, even after being informed of a normal result, and counseling
may be appropriate. If the screen truly was a false positive then it is essential to ensure that the family understand that their
child does not, and never did, have PKU or a variant and that the positive test result reflected issues connected with the testing
process and not their entirely healthy baby.

The metabolic physician's role

· Provides you with information on PKU
· Discusses, in further detail, the meaning of the test result with the family
· Starts appropriate     in conjunction with the metabolic dietician
· Provides supportive counseling for the family
· Undertakes definitive investigations
· Provides genetic / antenatal counseling
· Hospitalization is rarely neccessary but might be required, in a metabolic unit for difficulties in achieving compliance and
metabolic control via establishment of a dietary regimen family dietary education or if the family live too far to make frequent
trips to the metabolic center.

  



Treatment for PKU is the low-phenylalanine diet. As protein intake cannot be reduced sufficiently to prevent
hyperphenylalaninemia without causing deficiencies of other essential amino acids the diet must be supplemented with PKU
specific formulas that provide the other essential amino acids in adequate amounts. It is important however to ensure that
phenylalanine is supplied in low amounts such that blood levels are maintained between 200-360 µmol/L (2-6 mg/dl) to
prevent phenylalanine deficiency related problems.

If PKU is diagnosed early enough, an affected newborn can grow up with normal brain development, but only by eating a
special diet low in phenylalanine for the rest of his or her life. This requires severely restricting or eliminating foods high in
phenylalanine, such as meat, chicken, fish, nuts, cheese, legumes and other dairy products. Starchy foods such as potatoes,
bread, pasta, and corn must be monitored. Infants may still be breastfed to provide all of the benefits of breastmilk, though the
quantity must be monitored and supplementation will be required. Many diet foods and diet soft drinks that contain the
sweetener aspartame must also be avoided, as aspartame consists of two amino acids: phenylalanine and aspartic acid.

Supplementary infant formulas are used in these patients to provide the amino acids and other necessary nutrients that would
otherwise be lacking in a low phenylalanine diet. These can continue in other forms as the child grows up such as pills,
formulas, and specially formulated foods. (Since phenylalanine is necessary for the synthesis of many proteins, it is required but
levels must be strictly controlled). In addition, tyrosine, which is normally derived from phenylalanine, must be supplemented.)

The oral administration of tetrahydrobiopterin (a cofactor in the oxidation of phenylalanine) can reduce blood levels of the
amino acid in certain patients. The company BioMarin Pharmaceutical has produced a tablet preparation of the compound
sapropterin (Kuvan),which is a form of tetrahydrobiopterin. Kuvan is the first drug that can help BH4-responsive PKU patients
(defined among clinicians as 1/4 to 1/2 of the PKU population) keep their phenylalanine levels low. PKU patients who respond
[13]
to Kuvan (20-56% of those who try it) may also be able to increase the amount of protein they can safely eat. After extensive
clinical trials, Kuvan has been approved by the FDA for use in PKU therapy. Researchers and clinicians working with PKU are
finding Kuvan a safe and effective addition to dietary treatment and beneficial in increasing quality of life for their patients.
Some concerns have been expressed over Kuvan's safety, cost, and the potential for PKU sufferers to override the benefits of
the drug.

There are a number of other therapies currently under investigation, including gene therapy, and an injectable form of PAH.
Previously, PKU-affected people were allowed to go off diet after approximately 8, then 18 years of age. However, most
physicians now agree that this special diet should be followed throughout life.