Koch Richard, Moseley Kathryn D, Yano Shoji, Nelson Marvin, Moats Rex A
Division of Medical Genetics and Radiology Department, MS #90, Childrens Hospital of Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA.
Mol Genet Metab. 2003 Jun;79(2):110-3. doi: 10.1016/s1096-7192(03)00078-7.
Six subjects with classical phenylketonuria (PKU) were treated with large neutral amino acid supplements (PreKUnil, Nilab, Dk) at 0.4g/kg/day in equally divided doses three times each day on an increased natural protein diet. All six subjects had low or deficient blood concentrations of both tyrosine and tryptophan, which are precursors for dopamine and serotonin, respectively, at the beginning of the study and were increased substantially throughout the study. Blood phenylalanine concentrations remained essentially unchanged, while the brain phenylalanine concentrations gradually decreased toward the carrier range as seen in parents of children with PKU. Two subjects were diagnosed with clinical depression and were in counseling programs at initiation of the study. At the end of the study all patients reported increased energy and overall improvement in well-being.
六名患有经典型苯丙酮尿症（PKU）的受试者，在增加天然蛋白质饮食的基础上，每天以0.4g/kg的剂量补充大中性氨基酸（PreKUnil、Nilab、Dk），分三次等量服用。在研究开始时，所有六名受试者血液中酪氨酸和色氨酸的浓度都很低或缺乏，它们分别是多巴胺和血清素的前体，并且在整个研究过程中大幅增加。血液苯丙氨酸浓度基本保持不变，而大脑苯丙氨酸浓度逐渐降至PKU患儿父母中所见的携带者范围。两名受试者在研究开始时被诊断为临床抑郁症并参加了咨询项目。研究结束时，所有患者均报告精力增加，整体幸福感有所改善。
