{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:48:42Z","timestamp":1790419722421,"version":"4.1.0"},"reference-count":38,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2011,12,2]],"date-time":"2011-12-02T00:00:00Z","timestamp":1322784000000},"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":[[2012,5]]},"abstract":"<jats:p>\n                    Epilepsy in adenylosuccinate lyase deficiency may be difficult to treat, and there is no standardized therapy. The authors describe a case of severe adenylosuccinate lyase deficiency resulting from a heterozygous mutation of the\n                    <jats:italic toggle=\"yes\">ADSL<\/jats:italic>\n                    gene (p.D215H\/p.I351T). The patient presented with tonic-clonic seizures, opisthotonus, tremor, and myoclonus in the 4th day of life. The seizures were refractory on various combinations of antiepileptic treatment. A ketogenic diet was introduced at the age of 2 resulting in a seizure-free period. The patient, however, developed a metabolic hyperchloremic acidosis with Fanconi syndrome, which disappeared a month after cessation of the diet at the age of 5. Since the withdrawal of the ketogenic diet, seizures have returned to a frequency of several times a day. In conclusion, a ketogenic diet could be considered a valid therapeutic option in patients with intractable seizures in a course of adenylosuccinate lyase deficiency; however, it requires a formal study.\n                  <\/jats:p>","DOI":"10.1177\/0883073811424465","type":"journal-article","created":{"date-parts":[[2011,12,3]],"date-time":"2011-12-03T14:44:23Z","timestamp":1322923463000},"page":"645-649","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":21,"title":["Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency"],"prefix":"10.1177","volume":"27","author":[{"given":"Agnieszka","family":"Jurecka","sequence":"first","affiliation":[{"name":"Metabolic Diseases Clinic, the Children\u2019s Memorial Health Institute, Warsaw, Poland"},{"name":"Department of Molecular Biology, University of Gda\u0144sk, Gda\u0144sk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violetta","family":"Opoka-Winiarska","sequence":"additional","affiliation":[{"name":"Department of Paediatric Pulmonology and Rheumatology, Medical University of Lublin, Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dariusz","family":"Rokicki","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Clinic, the Children\u2019s Memorial Health Institute, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Tylki-Szyma\u0144ska","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Clinic, the Children\u2019s Memorial Health Institute, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2011,12,2]]},"reference":[{"key":"e_1_3_3_2_2","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Van den Berghe G","year":"2001","unstructured":"Van den Berghe G, Jaeken J . 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