Department of Laboratory Medicine, Capital Medical University, Beijing Obstetrics and Gynecology Hospital, Beijing, China.
Department of Pathology, Arkansas Children's Hospital, Little Rock, AR, USA.
Fetal Pediatr Pathol. 2022 Jun;41(3):443-450. doi: 10.1080/15513815.2020.1846647. Epub 2020 Nov 16.
Phenylalanine-restricted diets have been the basis of therapy for phenylketonuria; however, little is known how this treatment effects homeostasis of other amino acids. This study aimed to assess blood amino acid alterations in phenylketonuric neonates before and after treatment to identify any residual amino acid alterations with phenylalanine restriction in these treated children. Concentrations of 11 amino acids were measured using liquid chromatography-tandem mass spectrometry performed on dried blood spots. Elevated blood phenylalanine, arginine, citrulline, valine, methionine concentrations and decreased tyrosine, proline concentrations were observed in phenylketonuria neonates relative to controls, of which phenylalanine, arginine, methionine, tyrosine, and proline levels could be either partially or completely restored with dietary intervention, whereas citrulline and valine were not restored and remained higher. Blood amino acid homeostasis is disrupted in phenylketonuria. Although dietary intervention adjusts amino acid homeostasis in the direction of a healthy equilibrium, complete restoration is not achieved.
苯丙氨酸限制饮食一直是苯丙酮尿症治疗的基础；然而，对于这种治疗如何影响其他氨基酸的体内平衡，人们知之甚少。本研究旨在评估苯丙酮尿症新生儿治疗前后的血液氨基酸变化，以确定在这些治疗儿童中，苯丙氨酸限制是否存在任何残留的氨基酸变化。使用在干血斑上进行的液相色谱-串联质谱法测量 11 种氨基酸的浓度。与对照组相比，苯丙酮尿症新生儿的血液苯丙氨酸、精氨酸、瓜氨酸、缬氨酸、蛋氨酸浓度升高，酪氨酸、脯氨酸浓度降低，其中苯丙氨酸、精氨酸、蛋氨酸、酪氨酸和脯氨酸水平可通过饮食干预部分或完全恢复，而瓜氨酸和缬氨酸则未恢复，且仍较高。苯丙酮尿症患者的血液氨基酸平衡被打乱。尽管饮食干预使氨基酸平衡朝着健康平衡的方向调整，但并未完全恢复。
