{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Swanson MA"],"funding":["Dickens Family Foundation","NKH Crusaders","Joseph's Goal","Barnett Family","Maud & Vic Foundation","National Institutes of Health","Les Petits Bourdons","Lucas John Foundation","University of Colorado Foundation","Madi's Mission NKH Fund","Brodyn's Friends","William R Hummel Research Fund","Medical Research Council","National Health and Medical Research Council","Nora Jane Almany Foundation","NIH HHS"],"pagination":["e70137"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12848846"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["49(1)"],"pubmed_abstract":["Nonketotic hyperglycinemia is a severe neonatal epileptic encephalopathy caused by deficient glycine cleavage enzyme activity, for which currently no effective treatment exists. Incomplete understanding of brain biochemistry represents a major knowledge gap to develop new treatments. We examined the biochemistry in blood, liver, cortex, hippocampus, and cerebellum of a mouse model homozygous for the Gldc variant p.Ala394Val. Glycine was increased in all compartments and caused increased brain neurotoxic metabolites guanidinoacetate and methylglyoxal, and also N-acetylglycine and cystathionine. The glycine extruding transporter Slc6a20 was increased. There was reduced one-carbon folate charging with secondarily reduced methionine in the cortex, and reduced alternative one-carbon donors L-se"],"journal":["Journal of inherited metabolic disease"],"pubmed_title":["A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency."],"pmcid":["PMC12848846"],"funding_grant_id":["2009732","2016030","1140906","W00500X","S10 OD028538‐01A1","S10 OD028538-01A1"],"pubmed_authors":["Binard R","Wood T","Greene NDE","Jiang H","Anderson-Lehman L","Lin X","Arning E","Kolora LD","Michael B","Van Hove RA","Wong F","Reisdorph R","Lancaster S","Friederich MW","Molino R","Van Hove JLK","Leung KY","Doenges KA","Christians U","Michel CR","Stroud DA","Swanson MA","Snyder M","Hock DH","MacLean KN"],"additional_accession":[]},"is_claimable":false,"name":"A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency.","description":"Nonketotic hyperglycinemia is a severe neonatal epileptic encephalopathy caused by deficient glycine cleavage enzyme activity, for which currently no effective treatment exists. Incomplete understanding of brain biochemistry represents a major knowledge gap to develop new treatments. We examined the biochemistry in blood, liver, cortex, hippocampus, and cerebellum of a mouse model homozygous for the Gldc variant p.Ala394Val. Glycine was increased in all compartments and caused increased brain neurotoxic metabolites guanidinoacetate and methylglyoxal, and also N-acetylglycine and cystathionine. The glycine extruding transporter Slc6a20 was increased. There was reduced one-carbon folate charging with secondarily reduced methionine in the cortex, and reduced alternative one-carbon donors L-se","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-06-14T05:47:07.348Z","creation":"2026-06-14T03:09:16.948Z"},"accession":"S-EPMC12848846","cross_references":{"pubmed":["41603187"],"doi":["10.1002/jimd.70137"]}}