... development. These are known as de novo mutations. Glycine encephalopathy NKH Non-ketotic hyperglycinemia Genetic Testing Registry: Glycine encephalopathy Glycine encephalopathy National Organization for Rare Disorders (NORD) ...

... GLDC NCBI Gene ClinVar Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. Am J Med ... the GLDC gene in 28 unrelated patients with glycine encephalopathy. J Inherit Metab Dis. 2006 Feb;29(1): ...

... with T-protein deficiency as a cause of glycine encephalopathy (NKH). Mol Genet Metab. 2003 Aug;79(4): ...

... III, pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, or the glycine cleavage system. Affected infants often have severe brain dysfunction (encephalopathy) and elevated levels of a chemical called lactic ...

... III, pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, or the glycine cleavage system. Affected infants often have severe brain dysfunction (encephalopathy) and elevated levels of a chemical called lactic ...

... clusters, including those involved in energy production and glycine breakdown, ... encephalopathy, and other signs and symptoms of multiple mitochondrial ...

... or S52R). Another mutation replaces the amino acid glycine with one of two other amino acids, glutamic ... Lomas DA. Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase ...

... acid serine is replaced by the amino acid glycine at position 78 (written as Ser78Gly or S78G). ... with the liver (hepatopathy), kidneys (tubulopathy), and brain (encephalopathy). The BCS1L gene mutations associated with this condition ...

... ion channels; when brain chemicals called glutamate and glycine attach to the receptor, a channel opens, allowing ... seizures (epilepsy). Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS) ...

... ion channels. When brain chemicals called glutamate and glycine attach to the receptor, a channel opens, allowing ... WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences ...