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 [1]。 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]。 本病的临床表现不一，特征性表现为血和脑脊液甘氨酸增高伴难治性癫癎、肌张力低下、发育迟缓，是早发性癫癎性脑病的重要 …

There are different categories of Nonketotic Hyperglycinemia, and it can be very very confusing when trying to understand – especially because NKH can be so varied. Essentially, the categories point to different parts of NKH. Classic vs Variant – This refers to …

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.

Nonketotic hyperglycinemia, NKH for short, is a rare genetic disorder that affects 1 child in every 60,000 born. Children with this condition have a problem breaking down the amino acid glycine. Because glycine is not broken down, it accumulates in the body.

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 …

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。

Nonketotic hyperglycinemia (NKH) is a rare inborn error of glycine metabolism that is characterized by the accumulation of glycine in all tissues, especially in the central nervous system (CNS). Based on clinical outcomes, NKH can be divided into two forms, i.e., severe and attenuated NKH.

2019年5月23日 · Clinical characteristics: 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.

2024年8月14日 · Different disease processes and outcomes were found in Chinese NKH patients, according to this study. The initial clinical presentations, CSF glycine levels and CSF to plasma glycine ratios do not reliably predict prognosis, while MRI and EEG abnormalities may indicate a …

Non-ketotic hyperglycinaemia (NKH) is a well-recognized metabolic cause of life-threatening illness in the neonate. The fundamental defect is in the glycine cleavage system, which consists of four protein components. Our study revealed that the majority of NKH patients had a specific defect in P-pro …