Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency

Monica Del Rizzo; Alessandro P Burlina; Jörn Oliver Sass; Frauke Beermann; Chiara Zanco; Chiara Cazzorla; Andrea Bordugo; Laura Giordano; Renzo Manara; Alberto B Burlina

doi:10.1016/j.ymgme.2013.01.011

Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency

Mol Genet Metab. 2013 Apr;108(4):263-6. doi: 10.1016/j.ymgme.2013.01.011. Epub 2013 Jan 27.

Authors

Monica Del Rizzo¹, Alessandro P Burlina, Jörn Oliver Sass, Frauke Beermann, Chiara Zanco, Chiara Cazzorla, Andrea Bordugo, Laura Giordano, Renzo Manara, Alberto B Burlina

Affiliation

¹ Division of Metabolic Diseases, Department of Woman and Child Health, University Hospital of Padua, Via Giustiniani 3 35128 Padua, Italy. [email protected]

PMID: 23414711
DOI: 10.1016/j.ymgme.2013.01.011

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Metabolism, Inborn Errors / diagnosis*
Amino Acid Metabolism, Inborn Errors / diet therapy*
Brain / metabolism
Brain / pathology
Brain Diseases, Metabolic, Inborn / diagnosis
Brain Diseases, Metabolic, Inborn / metabolism
Female
Humans
Infant
Stroke / complications*
Sulfite Oxidase / deficiency

Substances

Sulfite Oxidase

Supplementary concepts

Sulfite oxidase deficiency