Severe isolated sulfide oxidase deficiency with a novel mutation

dc.contributor.authorErgene, Merit
dc.contributor.authorYarar, Nuriye
dc.contributor.authorOncel, Elif Perihan
dc.contributor.authorSezer, Taner
dc.contributor.authorCavdarli, Busranur
dc.contributor.authorEcevit, Ismail Zafer
dc.contributor.authorAydin, Halil Ibrahim
dc.contributor.orcID0000-0002-6126-4048en_US
dc.contributor.pubmedID34449156en_US
dc.contributor.researcherIDAAK-4837-2021en_US
dc.contributor.researcherIDAHD-1839-2022en_US
dc.date.accessioned2022-08-23T11:07:54Z
dc.date.available2022-08-23T11:07:54Z
dc.date.issued2021
dc.description.abstractBackground. Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. It mimics hypoxic-ischemic encephalopathy (HIE) in the neonatal period and is characterized by progressive severe neurological impairment due to accumulation of toxic metabolites. Case. This report presents a late diagnosed male patient with ISOD manifesting with neonatal-onset seizures, developmental delay, microcephaly, and spastic quadriplegia. Brain magnetic resonance imaging of the patient showed bilateral subcortical multi-cystic encephalomalacia involving bilateral parieto-occipital regions. A novel homozygous c.590_595delAGCCTC in-frame deletion in SUOX gene was identified in the patient, while both parents were heterozygous for that mutation. Conclusion. The mutation identified in our patient causes severe ISOD. Early diagnosis of ISOD is essential for accurate genetic counseling and achieving prenatal diagnosis. Screening for urinary sulfite in patients with neonatal or early infantile onset seizures, developmental delay, microcephaly and cystic encephalomalacia in neuroimaging mimicking HIE helps in early diagnosis.en_US
dc.identifier.endpage720en_US
dc.identifier.issn0041-4301en_US
dc.identifier.issue4en_US
dc.identifier.scopus2-s2.0-85114098679en_US
dc.identifier.startpage716en_US
dc.identifier.urihttp://www.turkishjournalpediatrics.org/uploads/pdf_TJP_2340.pdf
dc.identifier.urihttp://hdl.handle.net/11727/7401
dc.identifier.volume63en_US
dc.identifier.wos000691556600018en_US
dc.language.isoengen_US
dc.relation.isversionof10.24953/turkjped.2021.04.021en_US
dc.relation.journalTURKISH JOURNAL OF PEDIATRICSen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectsulfite oxidaseen_US
dc.subjectisolated sulfite oxidase deficiencyen_US
dc.subjectISODen_US
dc.subjectSUOXen_US
dc.subjectseizureen_US
dc.titleSevere isolated sulfide oxidase deficiency with a novel mutationen_US
dc.typearticleen_US

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