Allee Joy, Tobias Joseph D
Department of Anesthesiology, University of Missouri, Columbia, Missouri.
Saudi J Anaesth. 2010 Sep;4(3):197-201. doi: 10.4103/1658-354X.71578.
Non-ketotic hyperglycinemia (NKGH) is an autosomal recessive disorder of glycine metabolism. Defective glycine cleavage results in elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The accumulation of glycine, an inhibitory neurotransmitter, leads to a clinical presentation of apnea, lethargy, hypotonia, seizures, and severe psychomotor retardation. There are four clinical variants of NKHG, which have been described in the medical literature. Neonatal NKHG is the most common as well as the most devastating and lethal form of the disorder. Given the multi-system involvement of the disorder, there are several perioperative concerns of such patients with delayed emergence requiring supported ventilation being a common postoperative outcome for NKHG patients. We report the perioperative management of a 4-year-old boy with NKGH who required anesthetic care during an adenoidectomy and tonsillectomy for obstructive sleep apnea.
非酮症高甘氨酸血症（NKGH）是一种常染色体隐性遗传的甘氨酸代谢紊乱疾病。甘氨酸裂解缺陷导致血浆、尿液和脑脊液中甘氨酸浓度升高。甘氨酸作为一种抑制性神经递质，其蓄积会导致呼吸暂停、嗜睡、肌张力减退、癫痫发作以及严重精神运动发育迟缓等临床表现。医学文献中描述了NKHG的四种临床变异型。新生儿NKHG是该疾病最常见、最具破坏性且致命的形式。鉴于该疾病累及多个系统，这类患者围手术期存在诸多需要关注的问题，术后延迟苏醒需要辅助通气是NKHG患者常见的术后转归。我们报告了一名4岁NKGH男孩在腺样体扁桃体切除术中接受麻醉护理的围手术期管理情况，该手术旨在治疗阻塞性睡眠呼吸暂停。
