Founded in 2017 to provide information and support to families with living with Nonketotic Hyperglycinemia (NKH). We also work with NKH charities to raise funds for NKH Research, to bring about an effective treatment.

Each year we donate thousands to help meet the needs of children and families affected by NKH. As of July, 2020, the John Thomas NKH Foundation has entered into a 5 year agreement with the University of Notre Dame in order to support gene therapy research of the NKH disease.

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.

非酮症性高甘氨酸血症（nonketotic hyperglycinemia，NKH）又称甘氨酸脑病（MIM 605899），是一种常染色体隐性遗传病，由线粒体甘氨酸裂解酶系统缺陷引起，于1969年首次报道 [ 1 ]。 NKH可导致大量甘氨酸在血清、尿液及脑脊液等全身多处累积，引发严重的临床症状，特别是神经系统症状 [ 2, 3 ]。 目前我国仅报道10余例，临床上对该病的认识仍不足。 2019年11月我院新生儿科收治了1例NKH女婴，全外显子组测序显示GLDC基因外显子2个错义变异。 本文 …

Nonketotic Hyperglycinemia is a genetic metabolic disorder which prevents the body from processing glycine. Nonketotic Hyperglycinemia (NKH) is also known as Glycine encephalopathy. What is Glycine, and what is it used for? Glycine is an amino acid, the smallest amino acid there is.

The progression of NKH is tricky – because there are so many different mutations each child progresses differently. However, there are some anecdotal progression stages that parents have noticed. These aren’t hard and fast progressions – there hasn’t been any research done into NKH progression and they won’t apply to every child.

nkh的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原因。随着基因测序技术的发展和应用，目前已经报道的nkh致病基因主要包括amt（mim 238310）、gldc（mim 238300）和gcsh（mim 238330）。

NKH International Family Network’s goal is to connect families and provide support and knowledge to anyone affected by the metabolic condition Nonketotic Hyperglycinemia (NKH) or Glycine Encephalopathy. We offer information for those dealing with an NKH diagnosis, regardless of outcome or severity.

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.

2025年1月6日 · Early recognition of neonatal nonketotic hyperglycinemia is critical, aided by prenatal indicators such as hiccup-like movements. Treatment involves antiepileptic drugs, sodium benzoate, and ketamine for NMDA receptor modulation. However, prognosis remains challenging, emphasizing the importance of holistic care and therapeutic advancements.