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.
6 affiliations
- 1Department of Neonatology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China.
- 2Department of Neonatology, Quanzhou Maternal and Child Health Hospital, 700 Fengze Street, Quanzhou, Fujian Province, 362000, China.
- 3Department of Neonatology, Zhangzhou Affiliated Hospital of Fujian Medical University, Zhangzhou, Fujian Province, 363000, China.
- 4Department of Neonatology, Fuzhou First General Hospital Affiliated with Fujian Medical University, Fuzhou, Fujian Province, 350000, China. [email protected].
- 5Department of Neonatology, Quanzhou Maternal and Child Health Hospital, 700 Fengze Street, Quanzhou, Fujian Province, 362000, China. [email protected].
- 6Department of Neonatology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China. [email protected].
Abstract
Background
Currently, no curative treatment is available for isolated sulfite oxidase deficiency (ISOD), and disease progression is primarily managed by restricting sulfur-containing amino acids in the diet. Furthermore, despite its overall rarity, ISOD prevalence in the Chinese population has demonstrated an upward trend in recent years. Accordingly, this study investigated the clinical phenotype, imaging characteristics, mutation spectrum, and prognosis of ISOD in Chinese newborns.Methods
We retrospectively analyzed the clinical data from seven neonates with genetically confirmed ISOD from southeastern China between November 2018 and March 2025. including maternal and infant factors, clinical manifestations, laboratory results, and neuroimaging and genetic findings. Given the rarity of ISOD and the limited number of cases, we also performed a narrative synthesis of previously reported Chinese neonatal ISOD cases (n = 13) identified through a structured literature search to provide additional clinical context. The retrospective case series and previously published cases are presented descriptively, resulting in a total cohort of 20 patients.Results
All infants (20/20,100%) presented with intractable seizures within the first few days of life. Other common clinical presentations included increased muscle tone (15/20,75%) and feeding difficulty (14/20,70%). Lens dislocation was uncommon in this neonatal cohort (1/20,5%). Cranial neuroimaging abnormalities, predominantly symmetric abnormal signals involving bilateral cerebral hemispheres and basal ganglia, were detected in all 19 patients who completed brain imaging examinations; these characteristic radiological manifestations are easily misdiagnosed as hypoxic-ischemic encephalopathy. Laboratory tests revealed elevated urinary sulfite levels or decreased plasma homocysteine levels in some cases. Genetic analysis identified 11 distinct pathogenic variants of the SUOX gene, with c.1200 C > G (p.Tyr400Ter) being the most common mutation in China. The prognosis was extremely poor; only five patients (5/20,25%) survived following symptomatic treatment, including sulfur-restricted diets, with a median follow-up of 10 months (range: 6-18 months). All surviving infants exhibited refractory epilepsy and severe developmental delays.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.
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BibTeX
@article{zhang2026clinical,
title = {{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.}},
author = {Weifeng Zhang and Hongyuan Yang and Liping Xu and Zhiyong Liu and Junzi Huang and Ying He and Jinglin Xu and Liyan Zhang and Dongmei Chen and Cheng Cai},
journal = {Italian journal of pediatrics},
year = {2026},
month = jul,
doi = {10.1186/s13052-026-02317-3},
url = {https://europepmc.org/article/MED/42972410},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - 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.
AU - Weifeng Zhang
AU - Hongyuan Yang
AU - Liping Xu
AU - Zhiyong Liu
AU - Junzi Huang
AU - Ying He
AU - Jinglin Xu
AU - Liyan Zhang
AU - Dongmei Chen
AU - Cheng Cai
PY - 2026
DA - 2026/07/31
JO - Italian journal of pediatrics
DO - 10.1186/s13052-026-02317-3
UR - https://europepmc.org/article/MED/42972410
AB - Background Currently, no curative treatment is available for isolated sulfite oxidase deficiency (ISOD), and disease progression is primarily managed by restricting sulfur-containing amino acids in the diet. Furthermore, despite its overall rarity, ISOD prevalence in the Chinese population has demonstrated an upward trend in recent years. Accordingly, this study investigated the clinical phenotype, imaging characteristics, mutation spectrum, and prognosis of ISOD in Chinese newborns.Methods We retrospectively analyzed the clinical data from seven neonates with genetically confirmed ISOD from southeastern China between November 2018 and March 2025. including maternal and infant factors, clinical manifestations, laboratory results, and neuroimaging and genetic findings. Given the rarity of ISOD and the limited number of cases, we also performed a narrative synthesis of previously reported Chinese neonatal ISOD cases (n = 13) identified through a structured literature search to provide additional clinical context. The retrospective case series and previously published cases are presented descriptively, resulting in a total cohort of 20 patients.Results All infants (20/20,100%) presented with intractable seizures within the first few days of life. Other common clinical presentations included increased muscle tone (15/20,75%) and feeding difficulty (14/20,70%). Lens dislocation was uncommon in this neonatal cohort (1/20,5%). Cranial neuroimaging abnormalities, predominantly symmetric abnormal signals involving bilateral cerebral hemispheres and basal ganglia, were detected in all 19 patients who completed brain imaging examinations; these characteristic radiological manifestations are easily misdiagnosed as hypoxic-ischemic encephalopathy. Laboratory tests revealed elevated urinary sulfite levels or decreased plasma homocysteine levels in some cases. Genetic analysis identified 11 distinct pathogenic variants of the SUOX gene, with c.1200 C > G (p.Tyr400Ter) being the most common mutation in China. The prognosis was extremely poor; only five patients (5/20,25%) survived following symptomatic treatment, including sulfur-restricted diets, with a median follow-up of 10 months (range: 6-18 months). All surviving infants exhibited refractory epilepsy and severe developmental delays.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.
SN - 1824-7288
ER -