口服苯丙氨酸负荷后尿中的苯丙氨酸代谢产物。对鉴别经典型苯丙酮尿症与高苯丙氨酸血症变异型（杂合子和纯合子）的意义
[Phenylalanine metabolites in the urine after oral phenylalanine loading. Significance for the discrimination between classical phenylketonuria and variations of hyperphenylalaninemia (heterozygotes and homozygotes)].
作者信息
Koepp P
出版信息
Fortschr Med. 1977 Mar 10;95(10):627-31.
PMID:844759
Abstract
Modern newborn mass screening for inborn errors of metabolism results in detection of newborns with hyperphenylalaninemia. This investigation demonstrates that gaschromatographic analysis of phenylalanine metabolites in urine after phenylalanine challenge is a useful method for discriminating between classical phenylketonuria and hyperphenylalaninemic variants.
摘要
现代针对先天性代谢缺陷的新生儿群体筛查可检测出高苯丙氨酸血症的新生儿。本研究表明，苯丙氨酸激发试验后对尿液中苯丙氨酸代谢物进行气相色谱分析，是区分经典苯丙酮尿症和高苯丙氨酸血症变异型的一种有用方法。
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