Langenbeck U, Behbehani A, Mench-Hoinowski A
Institute of Human Genetics, University of Göttingen, Germany.
J Inherit Metab Dis. 1992;15(1):136-44. doi: 10.1007/BF01800355.
We present blood and urine levels of unconjugated o-hydroxyphenylacetic, phenyllactic and phenylpyruvic acids in 61 children (2 years of age and above) and juveniles with phenylketonuria on or partially off diet. The samples were obtained during 185 scheduled outpatient visits and have been analysed with gas chromatographic methods. The compiled data define reference ranges of phenylalanine transamination capacity and of renal transport of metabolites which may be of value in further studies on the pathogenesis of phenylketonuria.
我们展示了61名2岁及以上正在接受或部分停止饮食治疗的苯丙酮尿症儿童和青少年的血液及尿液中未结合的邻羟基苯乙酸、苯乳酸和苯丙酮酸的水平。样本取自185次预定的门诊就诊期间，并采用气相色谱法进行了分析。汇总的数据确定了苯丙氨酸转氨能力和代谢物肾脏转运的参考范围，这可能对苯丙酮尿症发病机制的进一步研究具有价值。
