2002年11月14日 · Based on ultimate outcome NKH is categorized into severe NKH (no developmental progress and intractable epilepsy) and attenuated NKH (variable developmental progress and treatable or no epilepsy). The majority of children with NKH have onset in the neonatal period manifest as progressive lethargy evolving …

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 ] 。

2016年2月17日 · Nonketotic hyperglycinemia (NKH; OMIM 605899) is an autosomal recessive disorder of glycine metabolism that results from deficient activity of the glycine cleavage enzyme...

2014年3月19日 · Nonketotic hyperglycinemia (NKH) is an inherited inborn error of glycine degradation caused by a defect in the glycine cleavage system, leading to an accumulation of glycine in tissues. It presents as varying degrees of neurological symptoms such as seizures and developmental delays.

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, also known as Glycine Encephalopathy) is a neurometabolic disorder in children which prevents their bodies from processing glycine. Glycine (amongst other things) is a neurotransmitter – sending signals in the brain and around the central nervous system (especially in the brainstem and spine).

2025年1月6日 · Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is a rare inherited neurometabolic disorder caused by a deficiency in the glycine cleavage enzyme system (GCS), leading to the pathological accumulation of glycine in blood and cerebrospinal fluid (CSF). This case report details …

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 …

2023年3月1日 · NKH-related seizures should be suspected in adults with new-onset clustering focal seizures arising from the motor or posterior cortices, even in the absence of a history of DM. Typical focal changes on brain MRI, while not pathognomonic, can drive the clinical diagnosis.