title: Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency.
abstract: 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 ADSL 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.
authors.affiliation: Metabolic Diseases Clinic, the Children's Memorial Health Institute, Warsaw, Poland. ajurecka@gmail.com
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Jurecka
authors.forename: Violetta
authors.initials: V
authors.lastname: Opoka-Winiarska
authors.forename: Dariusz
authors.initials: D
authors.lastname: Rokicki
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
mesh_terms: D000264:Adenylosuccinate Lyase / Q000172:deficiency / Q000235:genetics; D001321:Autistic Disorder; D002648:Child; D055423:Diet, Ketogenic / Q000379:methods*; D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis* / Q000178:diet therapy* / Q000235:genetics
chemical_list: D000264:Adenylosuccinate Lyase