经典型苯丙酮尿症患者的血苯丙氨酸清除率和 BH(4)反应性。
Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria.
机构信息
Department of Medical Genetics, Jagiellonian University, Poland.
出版信息
Mol Genet Metab. 2011 Aug;103(4):399-400. doi: 10.1016/j.ymgme.2011.04.014. Epub 2011 May 1.
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.
四氢生物蝶呤 (BH(4)) 已被证明可降低特定苯丙酮尿症患者的血液苯丙氨酸浓度，这些患者可通过 BH(4)负荷试验进行识别。然而，由于羟化作用以外的血液苯丙氨酸清除率，该测试的结果可能存在偏差。在经典型苯丙酮尿症患者中，特别是在“反应缓慢者”中，考虑到这一影响是必要的，因为 BH(4)负荷后通常会观察到血液苯丙氨酸浓度的边界下降，这是由于羟化作用以外的血液苯丙氨酸清除率所致。
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