非酮症性高血糖症(NKH)是一种先天性甘氨酸代谢错误,具有常染色体隐性遗传。一名女性婴儿因顽固性癫痫发作出现在我们的急诊科,嗜睡和张力减退,在她的常规疫苗接种后2周。详细的感染和代谢检查显示血糖正常,酮,乳酸氨,血清和脑脊液中甘氨酸水平高提示NKH。通过对AMT基因突变的遗传分析进一步证实了NKH的诊断。该儿童口服苯甲酸钠表现出临床改善。这里,我们报告了遗产,病理生理学,诊断方法,遗传确认,NKH患儿的治疗和预后。
Non-ketotic hyperglycinaemia (NKH) is an inborn error of glycine metabolism with autosomal recessive inheritance. A female infant presented to our emergency department with intractable seizures, lethargy and hypotonia, 2 weeks after her routine vaccination. Detailed infective and metabolic workup revealed normal blood sugar, ketone, lactate ammonia, and a high level of glycine in serum and cerebrospinal fluid suggesting NKH. Diagnosis of NKH was further confirmed on genetic analysis for AMT gene mutation. The child showed clinical improvement with oral sodium benzoate. Here, we report the inheritance, pathophysiology, diagnostic approach, genetic confirmation, management and prognosis of a child with NKH.