title: Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.
abstract: We report the first case of late-onset isolated sulfite oxidase deficiency (ISOD) presenting with a stroke-like episode. Clinical, biochemical and neuroradiological features at diagnosis and during follow-up after dietary treatment intervention are described. Furthermore, pathogenic mechanisms possibly leading to stroke in ISOD are discussed.
authors: Division of Metabolic Diseases, Department of Woman and Child Health, University Hospital of Padua, Via Giustiniani 3 35128 Padua, Italy. monica.delrizzo@sanita.padova.it
authors: Monica
authors: M
authors: Del Rizzo
authors: Alessandro P
authors: AP
authors: Burlina
authors: Jörn Oliver
authors: JO
authors: Sass
authors: Frauke
authors: F
authors: Beermann
authors: Chiara
authors: C
authors: Zanco
authors: Chiara
authors: C
authors: Cazzorla
authors: Andrea
authors: A
authors: Bordugo
authors: Laura
authors: L
authors: Giordano
authors: Renzo
authors: R
authors: Manara
authors: Alberto B
authors: AB
authors: Burlina
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy*; D001921:Brain / Q000378:metabolism / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D020521:Stroke / Q000150:complications*; D050876:Sulfite Oxidase / Q000172:deficiency
chemical_list: D050876:Sulfite Oxidase