{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T06:52:59Z","timestamp":1761893579770},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2000,2,1]],"date-time":"2000-02-01T00:00:00Z","timestamp":949363200000},"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":[[2000,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 6\u2010month\u2010old girl presented with hypotonia and mild psychomotor retardation. Subsequently, an atypical manifestation of a nonketotic hyperglycinaemia was diagnosed, confirmed by significantly reduced activity of the glycine cleavage system in the liver tissue. After the patient developed hypsarrhythmia and had a single cerebral seizure, treatment with both sodium benzoate and dextromethorphan was started. During the following year, the girl was free of seizures with improvement of the EEG activity and showed retarded but continuously progressing psychomotor development. At the age of 20 months she began to walk freely but had generalized muscular hypotonia and moderate mental retardation. Discontinuation of dextromethorphan medication after one year of treatment did not change the clinical and electroencephalographic status. However, after cessation of sodium benzoate therapy, epileptic activity in the EEG and behavioural changes occurred. These changes disappeared promptly after sodium benzoate therapy was reinstituted. Thus, this case of mild atypical nonketotic hyperglycinaemia with only moderate psychomotor retardation and without epilepsy benefited from treatment with sodium benzoate in terms of electroencephalographic and behavioural changes.<\/jats:p>","DOI":"10.1023\/a:1005642728513","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"22-26","source":"Crossref","is-referenced-by-count":23,"title":["Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia"],"prefix":"10.1002","volume":"23","author":[{"given":"J. M.","family":"Neuberger","sequence":"first","affiliation":[{"name":"Children's Hospital  Memmingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Schweitzer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medizinische Hochschule Hannover  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.\u2010O.","family":"Rolland","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie H\u00f4pital Debrousse  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Burghard","sequence":"additional","affiliation":[{"name":"Children's Hospital  Memmingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2000,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1542\/peds.97.6.924","article-title":"Efficacy of low\u2010dose dextromethorphan in the treatment of nonketotic hyperglycinemia","volume":"97","author":"Alemzadeh R","year":"1996","journal-title":"Pediatrics"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805533"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(91)82272-X"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(96)00158-0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81550-1"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.8.1064"},{"key":"e_1_2_1_8_1","first-page":"777","article-title":"Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delay","volume":"132","author":"Frazier DM","year":"1978","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_9_1","first-page":"A157","article-title":"Combination benzoate and dextromethorphan therapy for nonketotic hyperglycinemia","volume":"47","author":"Hamosh A","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82559-4"},{"key":"e_1_2_1_11_1","first-page":"1337","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Hamosh A","year":"1995"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70365-8"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80399-2"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091506"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.2.421"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.2.286"},{"key":"e_1_2_1_17_1","first-page":"596","article-title":"The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia","volume":"140","author":"Wol JA","year":"1986","journal-title":"Am J Dis Child"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005642728513","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005642728513","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T21:39:38Z","timestamp":1694813978000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005642728513"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,2]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,2]]}},"alternative-id":["10.1023\/A:1005642728513"],"URL":"https:\/\/doi.org\/10.1023\/a:1005642728513","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,2]]}}}