Ontology highlight
ABSTRACT:
SUBMITTER: Mhanni AA
PROVIDER: S-EPMC7784486 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Mhanni Aizeddin A AA Greenberg Cheryl R CR Spriggs Elizabeth L EL Agatep Ronald R Sisk Reena Ray RR Prasad Chitra C
Cold Spring Harbor molecular case studies 20201217 6
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 <i>S</i>-sulfocysteine. Missed diagnosis is not unusual because of variability in the sensitivity of the urinary sulfite and thiosulfate screening test. We present clinical, biochemical, and molecular data on two unrelated patients with isolated sulf ...[more]