Pineda M, Vilaseca M A, Artuch R, Santos S, García González M M, Aracil A, Van Schaftingen E, Jaeken J
S. Neuropediatria i Bioquímica, Unitat Integrada, Hospital Sant Joan de Déu/Hospital Clínic, Universitat de Barcelona, Spain.
Dev Med Child Neurol. 2000 Sep;42(9):629-33. doi: 10.1017/s0012162200001171.
3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a). The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs. Treatment with oral L-serine abolished seizures and improved psychomotor development, hyperexcitability, head growth, cortical and subcortical hypotrophy, and hypomyelination of the brain on MRI scans. 3-phosphoglycerate dehydrogenase deficiency is a treatable congenital error that probably leads to West syndrome.
3-磷酸甘油酸脱氢酶缺乏症是一种严重但可治疗的丝氨酸合成障碍疾病，于1996年首次被描述（杰克恩等人，1996年a）。该患者表现为韦斯特综合征、严重精神运动发育迟缓、生长发育不良、小头畸形、非典型眼球运动和锥体束征。口服L-丝氨酸治疗消除了癫痫发作，并改善了精神运动发育、过度兴奋、头部生长、大脑皮质和皮质下萎缩以及MRI扫描显示的脑白质发育不全。3-磷酸甘油酸脱氢酶缺乏症是一种可治疗的先天性疾病，可能导致韦斯特综合征。
