Functional alteration of the LAT1 amino acid transporter may be responsible for interindividual differences in cerebral phenylalanine content and the lack of intellectual disability in some patients with untreated phenylketonuria. We assessed the effect of the common variant rs113883650 of the SLC7A5 (LAT1) gene on brain phenylalanine content, as measured with use of magnetic resonance spectroscopy. Our results suggest that the presence of this variant could influence the amount of phenylalanine in the brain.

中文翻译：

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SLC7A5（LAT1）基因的rs113883650变体可能会改变PKU中的脑苯丙氨酸含量

LAT1氨基酸转运蛋白的功能改变可能是造成脑内苯丙氨酸含量的个体差异以及某些未经治疗的苯丙酮酸尿症患者缺乏智力障碍的原因。我们评估了SLC7A5（LAT1）基因的常见变体rs113883650对脑中苯丙氨酸含量的影响，这是使用磁共振波谱法测量的。我们的结果表明，这种变体的存在可能会影响大脑中苯丙氨酸的含量。