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Results 1 - 10 of 11 for Glycine encephalopathy 2
  1. Nonketotic hyperglycinemia 
    ... 59. Citation on PubMed Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. Am J Med Genet A. 2006 Jan 15;140(2):186-8. doi: 10.1002/ajmg.a.31030. ...
    https://medlineplus.gov/.../condition/nonketotic-hyperglycinemia - Genetics
  2. GLDC gene 
    ... GLDC NCBI Gene ClinVar Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. Am J Med Genet A. 2006 Jan 15;140(2):186-8. doi: 10.1002/ajmg.a.31030. ...
    https://medlineplus.gov/genetics/gene/gldc - Genetics
  3. BOLA3 gene 
    ... ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of ... PubMed BOLA ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  4. AMT gene 
    ... with T-protein deficiency as a cause of glycine encephalopathy (NKH). Mol Genet Metab. 2003 Aug;79(4): ...
    https://medlineplus.gov/genetics/gene/amt - Genetics
  5. SERPINI1 gene 
    ... or S52R). Another mutation replaces the amino acid glycine with one of two other amino acids, glutamic acid or arginine, at ... the endoplasmic reticulum. J Biol Chem. 2004 Jul 2;279(27):28283-91. doi: ... familial encephalopathy with neuroserpin inclusion bodies. J Biol Chem. 2005 ...
    https://medlineplus.gov/genetics/gene/serpini1 - Genetics
  6. NFU1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  7. Multiple mitochondrial dysfunctions syndrome 
    ... clusters, including those involved in energy production and glycine breakdown, ... encephalopathy, and other signs and symptoms of multiple mitochondrial ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  8. BCS1L gene 
    ... associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet. 2007 May 15;16(10):1241-52. doi: 10.1093/hmg/ddm072. Epub 2007 Apr 2. Citation on PubMed Gil-Borlado MC, Gonzalez-Hoyuela ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  9. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  10. GRIN2B gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/grin2b - Genetics
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