Journal of Rural Medicine ›› 2025, Vol.2 ›› Issue (9) DOI: 10.32629/jrm.v2i9.19991

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新生儿期经典型非酮症性高甘氨酸血症 1 例

陈苗苗

1 . 西安医学院临床医学研究生工作部

收稿日期:2025-09-01 08:44:12 发布日期:2026-02-14
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Classic Non-ketotic Hyperglycinemia (NKH) in the Neonatal Period：A Case Report

CHEN Miaomiao

Graduate Student Affairs Office of Clinical Medicine,Xi’an Medical University

Received:2025-09-01 08:44:12 Online:2026-02-14
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摘要/Abstract

摘要： 本文旨在补充非酮症性高甘氨酸血症（NKH，又称甘氨酸脑病）的临床病例数据，该疾病是发病率约 1/76000 的常染色体隐性遗传病，新生儿期起病且预后差。病例为 1 日龄早产男婴，因呼吸困难、精神反应差入院，经检查见肌张力低下、原始反射消失等症状，脑电图重度异常，血清及脑脊液甘氨酸水平显著升高。全外显子组基因检测显示其 GLDC 基因存在两处可能致病变异，符合 NKH 隐性遗传规律，最终确诊为甘氨酸脑病，经对症治疗后家长因预后差选择自动出院。NKH 因甘氨酸裂解酶系统活性不足致甘氨酸堆积引发，70%-75% 由 GLDC 基因缺陷导致。该病症状无特异性易误诊，目前缺乏有效治疗手段，现有药物疗效存疑。呼吁学界深入探索其病理机制与治疗靶点，积累临床数据以改善患儿预后。

关键词: 非酮症性高甘氨酸血症；新生儿；GLDC 基因；复合杂合变异

Abstract

This article aims to supplement clinical case data on nonketotic hyperglycinemia (NKH, also known as glycine encephalopathy), an autosomal recessive genetic disorder with an incidence of approximately 1/76,000, which manifests in the neonatal period and has a poor prognosis. The case report involves a 1-day-old preterm male infant admitted due to respiratory distress and poor mental responsiveness. Examination revealed symptoms such as hypotonia and absence of primitive reflexes, along with severe abnormality on electroencephalogram (EEG) and significantly elevated serum and cerebrospinal fluid glycine levels. Whole-exome sequencing identified two potential pathogenic variants in the GLDC gene, consistent with the recessive inheritance pattern of NKH, leading to a definitive diagnosis of glycine encephalopathy. After symptomatic treatment, the parents opted for voluntary discharge due to the poor prognosis. NKH is caused by glycine cleavage enzyme system deficiency leading to glycine accumulation, with 70%-75% of cases attributed to GLDC gene defects. The disease lacks specificity and is prone to misdiagnosis, with currently available treatments showing questionable efficacy. The study calls for in-depth exploration of its pathological mechanisms and therapeutic targets, as well as accumulation of clinical data to improve outcomes for affected children.

Objective

Methods

Results

Conclusion

Key words: Non-ketotic hyperglycinemia (NKH); Neonate; GLDC gene; Compound heterozygous variant

陈苗苗. 新生儿期经典型非酮症性高甘氨酸血症 1 例[J]. Journal of Rural Medicine, . DOI: 10.32629/jrm.v2i9.19991.
CHEN Miaomiao. Classic Non-ketotic Hyperglycinemia (NKH) in the Neonatal Period：A Case Report[J]. Journal of Rural Medicine, . DOI: 10.32629/jrm.v2i9.19991.

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https://jrm.front-sci.com/index/periodical/detail.html?submission_id=93

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参考文献

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新生儿期经典型非酮症性高甘氨酸血症 1 例

Classic Non-ketotic Hyperglycinemia (NKH) in the Neonatal Period：A Case Report

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