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苯丙酮尿症可致智能障碍,故研究其脑损害具有重要意义。目前临床应用最直接而方便的研究方法是通过磁共振成像(MRI)检查,发现大脑白质不同程度的改变,其神经脱髓鞘病变可能与胶质细胞的可塑性机制有关。大脑氨基酸及糖代谢异常、酪氨酸水平降低使神经递质多巴胺合成减少,MRI异常区域的白质糖代谢率降低。此外,M型乙酰胆碱受体及多巴胺受体数量减少,N型Ca2+通道减少而致神经细胞Ca2+转运障碍。这些研究对改进治疗有一定的启迪
Phenylketonuria can cause mental retardation, so the study of brain damage is of great significance. Currently the most direct and convenient clinical application of magnetic resonance imaging (MRI) examination and found that different degrees of white matter changes in the brain, the demyelinating lesions may be related to the plasticity of glial cells. Brain amino acid and glucose metabolism abnormalities, tyrosine levels reduce dopamine neurotransmitter synthesis, MRI abnormal white blood sugar metabolic rate decreased. In addition, the number of M-type acetylcholine receptors and dopamine receptors decreased, N-type Ca2 + channels decreased resulting in nerve cell Ca2 + transport disorder. These studies have some enlightenment on the improvement of treatment