{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:01:15Z","timestamp":1792202475576,"version":"4.4.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,10,15]],"date-time":"2011-10-15T00:00:00Z","timestamp":1318636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Glycine encephalopathy (GE) is a rare autosomal recessive inborn error of glycine degradation resulting in severe encephalopathy with ensuing poor outcome. Attenuated variants with a significantly better outcome have been reported. Early prediction of long\u2010term outcome is not yet possible.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We compared the clinical and biochemical features of 45 children, each with a different course of the disease, to help determine predictors of long\u2010term outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The most common presenting symptoms were hypotonia, seizures, and coma. In this study, 85% of the patients presented within the first week of life, and 15% presented after the neonatal period up to the age of 12 months. Developmental progress was made by 19% of those children presenting during the neonatal period and by 50% of those presenting in infancy. Initial CSF and plasma glycine concentrations were not useful in differentiating severe and attenuated outcome. A severe outcome was significantly associated with early onset of spasticity, frequent hiccupping, EEG burst\u2010suppression or hypsarrhythmia patterns, microcephaly, and congenital or cerebral malformations, e.g. corpus callosum hypoplasia. An attenuated outcome was significantly associated with hyperactivity and choreiform movement disorders. We describe a severity score which facilitates the prediction of the outcome in patients with GE.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Prediction of the outcome of GE may be facilitated by recognizing selected clinical parameters and early neuroimaging findings.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-011-9398-1","type":"journal-article","created":{"date-parts":[[2011,10,14]],"date-time":"2011-10-14T11:08:28Z","timestamp":1318590508000},"page":"253-261","source":"Crossref","is-referenced-by-count":99,"title":["Prediction of long\u2010term outcome in glycine encephalopathy: a clinical survey"],"prefix":"10.1002","volume":"35","author":[{"given":"Julia B.","family":"Hennermann","sequence":"first","affiliation":[{"name":"Department of Pediatrics Charit\u00e9 Universit\u00e4tsmedizin Augustenburger Platz 1 Berlin 13353 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne\u2010Marie","family":"Berger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Charit\u00e9 Universit\u00e4tsmedizin Augustenburger Platz 1 Berlin 13353 Germany"},{"name":"Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy Medizinische Einrichtungen des Bezirks Oberpfalz Regensburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Grieben","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Charit\u00e9 Universit\u00e4tsmedizin Berlin Germany"},{"name":"Experimental and Clinical Research Center, A Joint Cooperation Between Charit\u00e9 Medical Faculty and the Max\u2010Delbr\u00fcck Center for Molecular Medicine Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunter","family":"Scharer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado Aurora CO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan L. K.","family":"Van Hove","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado Aurora CO USA"},{"name":"Department of Pediatrics Katholieke Universiteit Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,10,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3224"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000031222.38328.59"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.105.1.e10"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(96)00158-0"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.02.010"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0939-6411(03)00091-2"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0939-6411(03)00090-0"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.02.009"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2010.04.002"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805579"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.016"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02436754"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10681"},{"key":"e_1_2_10_15_1","first-page":"2065","volume-title":"Nonketotic hyperglycinemia","author":"Hamosh A","year":"2001"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70365-8"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(99)00108-4"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.2217\/14796708.1.5.621"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000144270.83080.29"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1258\/000456306775141759"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20159"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.02.044"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2006.06.009"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004410000343"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.2.421"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711901"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590410"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.3.754"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0033-x"},{"key":"e_1_2_10_30_1","first-page":"596","article-title":"The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia","volume":"140","author":"Wolff JA","year":"1986","journal-title":"Am J Dis Child"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2008.10.007"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9398-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T22:04:30Z","timestamp":1694815470000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9398-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10,15]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1007\/s10545-011-9398-1"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9398-1","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,10,15]]}}}