Severe isolated sulfide oxidase deficiency with a novel 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.PMID:34449156 | DOI:10.24953/turkjped.2021.04.021

Source: The Turkish Journal of Pediatrics - August 27, 2021 Category: Pediatrics Authors: Meri ç Ergene Nuriye Yarar Elif Perihan Öncel Taner Sezer B üşranur Çavdarlı İsmail Zafer Ecevit Halil İbrahim Aydın Source Type: research