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?

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.

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。 该病临床表现不一，根据临床结局分为重症型NKH和轻型NKH。 脑脊液甘氨酸水平升高为其特征性表现，进一步的确诊需要基因检测及酶活性检测。 目前该病缺乏有效的治疗手段且整体预后差，常用苯甲酸钠、N-甲基-D天冬氨酸受体拮抗剂治疗。 该文就NKH的研究 …

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.

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 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 …

2023年3月2日 · Nonketotic hyperglycinemia is a rare, genetic, inborn error of glycine metabolism. Due to a mutation in the glycine cleavage enzyme system, the patient cannot break down glycine, resulting in its accumulation throughout the body.

Nonketotic hyperglycinemia (NKH) is an inherited (genetic) condition that prevents your baby’s body from breaking down a substance called glycine in the blood. Glycine is an amino acid, one of the building blocks that makes up proteins. Glycine is also used as a neurotransmitter, which helps send signals from one part of the brain to another.

Nonketotic Hyperglycinemia is an autosomal recessive disorder. This means for a child to have Nonketotic Hyperglycinemia they inherited two copies of the mutated gene (one from each parent). A child with only one copy will be a carrier. Carriers are in no way affected by the NKH or have any signs or symptoms of the disorder.

Empowering families diagnosed with NKH (Nonketotic Hyperglycinemia) with access to the resources and education they need for standards of care, treatment options, and current research data. Need Help? We all share common challenges with NKH. Developing a patient registry and connecting all families across the globe is our goal.