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 …

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 …

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 …

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 …

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 …

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 …

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 …

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), …

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 …

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 …