Swaiman K F, Wu S R
Neurology. 1984 Sep;34(9):1246-50. doi: 10.1212/wnl.34.9.1246.
Myelin alteration is thought to be the primary pathologic characteristic of phenylketonuria. Clinical symptoms and histologic changes in brain suggest that neuronal insult also may be important. We evaluated the effects of chronic exposure of phenylalanine (0.6 mM) and phenylacetate (0.6 mM) on immature mammalian cortical neuronal cultures. Observations after exposure suggested neuronal drop out. 125I-tetanus toxin binding, choline acetyltransferase activity, high-affinity 3H-GABA uptake, and glutamic acid decarboxylase activity decreased in the presence of either metabolite. Neither substance was a more potent cause of adverse effects. Chronic exposure to either phenylalanine or phenylacetate had a detrimental effect on cultured cortical neurons, both cholinergic and GABAergic.
髓鞘改变被认为是苯丙酮尿症的主要病理特征。大脑中的临床症状和组织学变化表明，神经元损伤可能也很重要。我们评估了长期暴露于苯丙氨酸（0.6 mM）和苯乙酸（0.6 mM）对未成熟哺乳动物皮质神经元培养物的影响。暴露后的观察结果提示神经元脱失。在任何一种代谢产物存在的情况下，125I-破伤风毒素结合、胆碱乙酰转移酶活性、高亲和力3H-GABA摄取和谷氨酸脱羧酶活性均降低。两种物质都不是更有效的不良反应原因。长期暴露于苯丙氨酸或苯乙酸对培养的皮质神经元，包括胆碱能和GABA能神经元，都有有害影响。
