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四氢生物蝶呤(BH4)敏感性苯丙氨酸羟化酶(PAH) 缺乏的特点是,在BH4负荷试验后,患者血中的苯丙氨酸水平降低。大多数BH4敏感性PAH缺陷的患者都有轻度的苯丙酮尿症(PKU)和轻度的高苯丙氨酸血症(HPA),但并非所有轻度PKU患者对BH4敏感。笔者所做的苯丙氨酸呼吸试验是一种确定BH4敏感性的可靠方法。苯丙氨酸呼吸试验定量测定从L-[1-13C]苯丙氨酸到13CO2(羟苯丙氨酸)的转化,该试验是一种无创
Tetrahydrobiopterin (BH4) Sensitivity Phenylalanine hydroxylase (PAH) deficiency is characterized by a decreased level of phenylalanine in the patient’s blood after the BH4 stress test. Most patients with BH4-sensitive PAH deficiency have mild phenylketonuria (PKU) and mild hyperphenylalaninemia (HPA), but not all patients with mild PKU are sensitive to BH4. The phenylalanine breath test I conducted is a reliable method of determining the sensitivity of BH4. Phenylalanine Respiration Test Quantitatively determine the conversion of L- [1-13C] -phenylalanine to 13CO2 (hydroxyphenylalanine), a non-invasive