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 ...

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.

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.

Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is an autosomal recessive genetic disease with abnormal glycine metabolism caused by insufficient activity of the glycine cleavage enzyme system (GCS), and NKH is clinically characterized by the abnormal accumulation of glycine in all tissues of the human body, especially ...

Nonketotic hyperglycinemia (NKH) is a metabolic disorder with autosomal recessive inheritance, causing severe, frequently lethal, neurological symptoms in the neonatal period....

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。

2024年8月14日 · Introduction: Nonketotic hyperglycinemia (NKH) is a rare, life-threatening genetic disorder. The patients usually show heterogeneous and nonspecific symptoms, resulting in diagnosis challenges using conventional approaches.

NKH is a rare, inherited metabolic disorder caused by a problem in the GLDC or AMT gene. These genes are responsible for controlling a group of enzymes that work together to break down an amino acid called glycine.

2022年5月26日 · This study widens the phenotypic spectrum of attenuated NKH and expands the number of pathogenic variants. The multiparametric approach provides a promising tool to predict disease severity, helping to improve clinical management strategies.