2002年11月14日 · Nonketotic hyperglycinemia (NKH) is the inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme system (GCS), which results in accumulation of large quantities of glycine in all body tissues including the brain.

2016年9月14日 · Non-ketotic hyperglycinemia (NKH) is a rare, genetic, metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body’s tissues and fluids. There is a classical form of NKH and a variant form of NKH.

2024年7月23日 · Nonketotic hyperglycinemia (NKH) is a rare disorder in which abnormally high levels of a molecule called glycine build up in your baby’s body. The excess glycine accumulates in tissues and organs, particularly your baby’s brain, leading to serious neurological problems. Very little treatment is available for this genetic condition. What is NKH?

非酮性高甘氨酸血症(nonketotic hyperglycinemia，NKH)，又称甘氨酸脑病，是一种罕见的致死性常染色体隐性遗传病，是由于甘氨酸裂解系统活性不足，使甘氨酸分解障碍而在体内蓄积，导致神经系统进行性损伤。

非酮症高甘氨酸血症（nonketotic hyperglycinemia, NKH）是一种罕见的先天性遗传代谢性疾病，为常染色体隐性遗传，发病率约为1/250000 。 我国大陆地区发病率不详，仅有一个病例的报道 [ 2 ] ；台湾地区的估计发病率为每1000 000活产新生儿7.2例 [ 3 ] 。

2019年1月18日 · 非酮性高甘氨酸血症（non-ketotic hyperglycinemia，NKH）又称甘氨酸脑病（glycine encephalopathy，GE，MIM 605899),因甘氨酸裂解酶系统(glycine cleavage system，GCS)缺陷导致甘氨酸降解障碍，在体内各器官组织，尤其是脑脊液中异常蓄积而引起脑 …

非酮性高甘氨酸血症（NKH）是一种罕见的先天性遗传代谢性疾病，该文报道1例GLDC基因突变所致NKH的中国患儿，就其临床经过、基因缺陷进行研究。 患儿以早发性代谢性脑病以及大田原综合征起病，血、尿串联质谱分析均未见异常，颅脑MRI提示胼胝体发育欠佳，脑电图提示爆发抑制。 目标基因捕获下代测序结合多重连接探针扩增发现，患儿存在GLDC基因的母源外显子15 c.1786 C > T（p.R596X）杂合无义突变及父源外显子4-15大片段杂合缺失，均为明确致病突变，确诊 …

2023年3月2日 · Nonketotic hyperglycinemia (NKH) is a rare genetic disease secondary to an inborn error in glycine metabolism. Due to a mutation in the glycine cleavage enzyme system, the patient cannot break down glycine, ultimately accumulating it throughout the body.

NKH International Family Network’s goal is to connect families and provide support and knowledge to anyone affected by the metabolic condition Nonketotic Hyperglycinemia (NKH) or Glycine Encephalopathy. We offer information for those dealing with an NKH diagnosis, regardless of outcome or severity.

2013年12月10日 · Nonketotic hyperglycinemia (NKH, MIM# 605899) is a disorder of glycine metabolism defined by deficient enzyme activity of the glycine cleavage enzyme system and biochemically characterized by elevated glycine in serum and CSF, with an increased CSF:plasma glycine ratio.