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.

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?

2016年6月30日 · Nonketotic hyperglycinemia (NKH; OMIM 605899) is an autosomal recessive disorder of glycine metabolism that results from deficient activity of the glycine cleavage enzyme...

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.

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.

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 glycine. Because glycine is not broken down, it accumulates in the body.

2023年3月2日 · Nonketotic hyperglycinemia (NKH) is a rare genetic disease secondary to an inborn error in glycine metabolism. Due to a mutation in the glycine cleavage enzyme system, the patient cannot break down glycine, ultimately accumulating it throughout the body.

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) 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.