Clinical, neuroimaging, and genetic analyses of isolated sulfite oxidase deficiency in Chinese neonates: a retrospective case series with a narrative synthesis of previously reported cases

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03 Nov 2026 0 comments

CONCLUSION: The hallmark features of ISOD in Chinese neonates include refractory seizures occurring shortly after birth and characteristic neuroimaging patterns. The c.1200 C > G (p.Tyr400Ter) SUOX gene mutation is the most common pathogenic variant. Given the poor prognosis and lack of effective treatment, prenatal genetic diagnosis is recommended for early intervention in high-risk families.