Isolated sulfite oxidase deficiency: a founder mutation.

Authors

Aizeddin A Mhanni
Cheryl R Greenberg
Elizabeth L Spriggs
Ronald Agatep
Reena Ray Sisk
Chitra Prasad, London Health Sciences Centre, Western University, London, Ontario N6A 5A5, CanadaFollow

Document Type

Article

Publication Date

12-1-2020

Journal

Cold Spring Harbor Molecular Case Studies

Volume

6

Issue

6

URL with Digital Object Identifier

http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs.a005900

Abstract

Isolated sulfite oxidase deficiency is a rare autosomal recessive inborn error of sulfur metabolism. Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and

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