正常人和苯丙酮尿症患者口服L-苯丙氨酸、L-酪氨酸和L-色氨酸负荷后体内的生物蝶呤衍生物
Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.
作者信息
Leeming R J, Blair J A, Green A, Raine D N
出版信息
Arch Dis Child. 1976 Oct;51(10):771-7. doi: 10.1136/adc.51.10.771.
Abstract
Plasma biopterin derivatives studied in 10 normal and 21 phenylketonuric children showed a significantly high concentration in the latter group. Biopterin derivatives correlated with plasma phenylalanine concentration, but in normal adults given an oral phenylalanine load the rate of increase with phenylalanine differed from that in phenylketonuric patients. A patient with hyperphenylalaninaemia, not due to phenylketonuria, had an abnormal biopterin derivatives response to phenylalanine distinct from that of patients with classical phenylketonuria. This may be a useful investigation to differentiate some variants of phenylketonuria.
摘要
对10名正常儿童和21名苯丙酮尿症儿童的血浆生物蝶呤衍生物进行研究，结果显示后者组中的浓度显著较高。生物蝶呤衍生物与血浆苯丙氨酸浓度相关，但在给予口服苯丙氨酸负荷的正常成年人中，其随苯丙氨酸的增加速率与苯丙酮尿症患者不同。一名非苯丙酮尿症所致的高苯丙氨酸血症患者，其对苯丙氨酸的生物蝶呤衍生物反应异常，与经典苯丙酮尿症患者不同。这可能是区分某些苯丙酮尿症变异型的一项有用检查。
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