There is a theory that according to the laws of aerodynamics, Bumblebee’s shouldn’t have the ability to fly. But they don’t know that, and they do. Similarly, NKH parents are told their babies won’t live, but they do. Which is why the NKH community has taken on the symbol of the bumblebee. And so goes the introduction into the world of NKH.

2002年11月14日 · Establishing the Diagnosis. The diagnosis of NKH is established in a proband with elevated glycine in plasma and CSF (), a compatible pattern on brain imaging, and either biallelic pathogenic (or likely pathogenic) variants in one of the genes encoding the protein subunits of the GCS identified on molecular genetic testing or deficient activity of the GCS (without deficiency of cofactors such ...

非酮性高甘氨酸血症(nonketotic hyperglycinemia，NKH)是一种罕见病，全球发病率大约为1/76 000 [] 。 不同地区发病率差异很大，其中突尼斯的凯鲁万地区发病率最高，为1/9 984 [] ，其他地区报道的发病率约为1/138 889 [] 。 NKH病死率高，预后差，尽早诊治是改善轻型患者预后的关键。

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 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. Additionally, there are links to the ‘next ...

It’s a common folklore in the NKH Community that from an aerodynamic standpoint, bee’s should be able to fly. And yet, they do. Parents of children with NKH are often told their child will die, but many fly. It seems fitting that a community of donors …

NKH usually affects infants and children, appearing shortly after birth. It is a genetic disorder and is inherited from both parents. There is a wide range of severities with NKH, as the individual mutations affect the child’s quality of life. Some children have very severe NKH. As such they have complex medical needs and can have severe ...

The NKH community is a very small but mighty group. We are determined to fund and find a cure or better treatment for those diagnosed with NKH. Join the community and discover experienced peers to help you navigate this journey. Help the researchers by completing the patient registry and providing medical information.

Children with NKH usually present as newborns, but 1 in 5 children presents in infancy. Typical symptoms include seizures, low tone, and severe problems with learning and development. This can profoundly affect a child’s ability to learn and to do normal things such as eating, sitting, and walking. The seizures can be so severe that they are ...

2024年7月23日 · To make an NKH diagnosis, your baby’s healthcare provider will perform a physical exam and evaluate their symptoms. They’ll also test their cerebral spinal fluid (CSF) and plasma glycine levels. When the enzyme activity is deficient, it causes elevated glycine levels in CSF and plasma. It also causes an elevated CSF to plasma glycine ratio.