Coşkun Turgay, Aydin Halil Ibrahim, Kiliç Mustafa, Dursun Ali, Haliloğlu Göknur, Topaloğlu Haluk, Karli-Oğuz Kader, de Koning Tom J
Unit of Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2009 Nov-Dec;51(6):587-92.
Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report a 4 1/2-year-old boy who presented with congenital microcephaly, psychomotor retardation, hypertonia, strabismus, and drug-resistant seizures due to 3-PGDH deficiency. His seizures responded to L-serine and glycine supplementation only. This potentially treatable disease should be borne in mind in patients with congenital microcephaly, psychomotor retardation and seizures. A timely diagnosis based on the detection of low cerebrospinal fluid levels of L-serine and glycine is expected to further increase the success of L-serine and glycine supplementation in these patients.
丝氨酸缺乏症是一组新的神经代谢疾病，由L-丝氨酸生物合成途径中的三种酶之一缺乏所致。催化生物合成途径第一步的3-磷酸甘油酸脱氢酶（3-PGDH）缺乏会导致先天性小头畸形、严重精神运动发育迟缓及难治性癫痫发作。我们报告一名4岁半男孩，因3-PGDH缺乏出现先天性小头畸形、精神运动发育迟缓、肌张力亢进、斜视及耐药性癫痫发作。其癫痫发作仅对补充L-丝氨酸和甘氨酸有反应。对于患有先天性小头畸形、精神运动发育迟缓及癫痫发作的患者，应考虑到这种潜在可治疗的疾病。基于检测脑脊液中L-丝氨酸和甘氨酸水平降低进行及时诊断，有望进一步提高这些患者补充L-丝氨酸和甘氨酸的成功率。
