
Nonketotic Hyperglycinemia - GeneReviews® - NCBI Bookshelf
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 …
Nonketotic Hyperglycinemia (NKH): What It Is & Symptoms - Cleveland Clinic
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 …
The genetic basis of classic nonketotic hyperglycinemia due to ...
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 …
Nonketotic Hyperglycinemia - Symptoms, Causes, Treatment | NORD
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 …
Nonketotic Hyperglycinemia - PubMed
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), …
Nonketotic Hyperglycinemia (NKH) International Family Network
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) …
NKH - NKH International Family Network
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 …
Nonketotic Hyperglycinemia - StatPearls - NCBI Bookshelf
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, …
Non-ketotic hyperglycinemia (NKH; GCE1) - National Center for ...
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 …
Nonketotic hyperglycinemia | Newborn Screening
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, …