Langan T J, Pueschel S M
Curr Probl Pediatr. 1983 Jan;13(3):1-30. doi: 10.1016/0045-9380(83)90016-6.
The salient features of nonketotic hyperglycinemia include apnea, feeding difficulties, lethargy, seizures, abnormal muscle tone and reflex activity, significant developmental delay, and, in most instances, early death. The pathogenesis of the biochemical defect leading to increased glycine concentration in blood, urine, and CSF is likely to concern derangements of the glycine cleavage enzyme and/or transport mechanisms of glycine. Our current state of knowledge of this disorder is incomplete. Therapeutic attempts, as described in Table 2, have been largely unsuccessful. Further basic research on the underlying biochemical perturbation, including additional documentation of the glycine cleavage enzyme deficiency patterns, of substrate inhibition of key metabolic pathways, and of glycine transport aberrations, as well as investigations of new pharmacologic approaches, will be a challenge for investigators in this field. It is hoped that new knowledge in these areas will eventually lead to reduction of morbidity and mortality in children with nonketotic hyperglycinemia.
非酮症高甘氨酸血症的显著特征包括呼吸暂停、喂养困难、嗜睡、癫痫发作、肌张力和反射活动异常、严重发育迟缓，且在大多数情况下会早期死亡。导致血液、尿液和脑脊液中甘氨酸浓度升高的生化缺陷的发病机制可能与甘氨酸裂解酶和/或甘氨酸转运机制紊乱有关。我们目前对这种疾病的了解尚不完整。如表2所述，治疗尝试大多未成功。对潜在生化紊乱进行进一步的基础研究，包括甘氨酸裂解酶缺乏模式的更多记录、关键代谢途径的底物抑制以及甘氨酸转运异常，以及新的药理学方法研究，将是该领域研究人员面临的一项挑战。希望这些领域的新知识最终能降低非酮症高甘氨酸血症患儿的发病率和死亡率。
