Abstract
Tetrahydrobiopterin (BH 4) has been shown to decrease blood phenylalanine concentration in selected patients with phenylketonuria who can be identified with use of the BH 4-loading test. However, the results of the test could be biased due to hydroxylation-independent blood phenylalanine clearance. Considering of this effect is necessary in patients with classic phenylketonuria, particularly in “slow responders,” in whom borderline decrease in blood phenylalanine concentration is typically observed as a result of BH 4-loading.
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