title: Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.
abstract: We present a 9-year follow-up of a patient with an attenuated (type II) adenylosuccinate lyase deficiency with no obvious signs of disease progression and degradation. We also review the literature, focusing on attenuated phenotype, and we report a positive effect of a ketogenic diet on seizure control. The patient presented at the age of 5 months with a history of global developmental delay. Screening of urinary purine metabolites revealed elevation of succinyladenosine and succinylaminoimidazolecarboxamide riboside (a ratio of 2:1). Mutation analysis revealed a compound heterozygosity for missense mutations: p.R426H and p.D268H. She began to walk independently at the age of 3 years. From the age of 4 years, her communication skills improved and she presented fewer autistic features. Due to poor results in seizure control, the ketogenic diet was introduced at the age of 7 years, resulting in reduction of seizure frequency. Currently, at the age of 9 years, the girl is attending a special kindergarten and is functioning very well in her preschool group. She began to make statements that form a logical continuity and make progress in simple manual operations. The patient participates in therapies such as pet therapy, hippotherapy, speech therapy, physiotherapy, hydrotherapy, and music therapy.
authors.affiliation: Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Jurecka
authors.affiliation: Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors.forename: Marie
authors.initials: M
authors.lastname: Zikanova
authors.affiliation: Department of Radiology, MR Unit, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Jurkiewicz
authors.affiliation: Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
mesh_terms: D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D001321:Autistic Disorder; D002648:Child; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis*
chemical_list: D000264:Adenylosuccinate Lyase