{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:19:47Z","timestamp":1777803587293,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2012,4,24]],"date-time":"2012-04-24T00:00:00Z","timestamp":1335225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:p>Nonketotic hyperglycinemia is a rare metabolic disorder with severe, frequently fatal, neurologic manifestations. Reliable and accurate diagnosis depends on careful interpretation of laboratory findings. The clinical suspicion should lead to determination of glycine in plasma and cerebrospinal fluid. Amino acid analysis presents diagnostic values for classic nonketotic hyperglycinemia, but it also should be performed in suspected cases of atypical nonketotic hyperglycinemia and in children with seizures, failure to thrive, behavior problems, and uncoordinated movements. Clinical assessment should be reinforced by demonstration of elevated cerebrospinal fluid\u2013to\u2013plasma glycine ratio. Confirmatory diagnosis requires enzymatic and genetic investigation of glycine cleavage system. An early diagnosis, though not affecting clinical outcome, allows proper genetic counseling, with the possibility of prenatal diagnosis. We report 3 cases of nonketotic hyperglycinemia, 2 typical neonatal and 1 atypical, diagnosed in Pediatric Hospital of Coimbra, Portugal, and investigated at Laboratory of Biochemical Genetics in 2004 to 2010 (incidence 1:47 455; prevalence 1:782 951).<\/jats:p>","DOI":"10.1177\/0883073812441063","type":"journal-article","created":{"date-parts":[[2012,4,24]],"date-time":"2012-04-24T21:12:42Z","timestamp":1335301962000},"page":"251-254","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":17,"title":["Nonketotic Hyperglycinemia"],"prefix":"10.1177","volume":"28","author":[{"given":"Carla","family":"Ver\u00edssimo","sequence":"first","affiliation":[{"name":"Centro de Neuroci\u00eancias e Biologia Celular, Universidade de Coimbra, Laborat\u00f3rio de Bioqu\u00edmica Gen\u00e9tica, Coimbra, Portugal"}]},{"given":"Paula","family":"Garcia","sequence":"additional","affiliation":[{"name":"Unidade de Doen\u00e7as Metab\u00f3licas, Hospital Pedi\u00e1trico, Centro Hospitalar e Universit\u00e1rio de Coimbra, EPE, Coimbra, Portugal"}]},{"given":"Marta","family":"Sim\u00f5es","sequence":"additional","affiliation":[{"name":"Centro de Neuroci\u00eancias e Biologia Celular, Universidade de Coimbra, Laborat\u00f3rio de Bioqu\u00edmica Gen\u00e9tica, Coimbra, Portugal"}]},{"given":"Concei\u00e7\u00e3o","family":"Robalo","sequence":"additional","affiliation":[{"name":"Unidade de Doen\u00e7as Metab\u00f3licas, Hospital Pedi\u00e1trico, Centro Hospitalar e Universit\u00e1rio de Coimbra, EPE, Coimbra, Portugal"}]},{"given":"Raquel","family":"Henriques","sequence":"additional","affiliation":[{"name":"UCIRN-Maternidade Daniel de Matos, Centro Hospitalar e Universit\u00e1rio de Coimbra, EPE, Coimbra, Portugal"}]},{"given":"Lu\u00edsa","family":"Diogo","sequence":"additional","affiliation":[{"name":"Unidade de Doen\u00e7as Metab\u00f3licas, Hospital Pedi\u00e1trico, Centro Hospitalar e Universit\u00e1rio de Coimbra, EPE, Coimbra, Portugal"}]},{"given":"Manuela","family":"Grazina","sequence":"additional","affiliation":[{"name":"Centro de Neuroci\u00eancias e Biologia Celular, Universidade de Coimbra, Laborat\u00f3rio de Bioqu\u00edmica Gen\u00e9tica, Coimbra, Portugal"},{"name":"Faculdade de Medicina, Universidade de Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal"}]}],"member":"179","published-online":{"date-parts":[[2012,4,24]]},"reference":[{"key":"bibr1-0883073812441063","first-page":"2065","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Hamosh 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