Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Isolated sulfite oxidase deficiency (ISOD) is a life‐threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX (OMIM 606887) gene.
Peng Du +7 more
doaj +3 more sources
Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family [PDF]
Frontiers in Genetics, 2021 AimTo explore the clinical imaging, laboratory and genetic characteristics of a newborn boy with isolated sulfite oxidase deficiency (ISOD) in a Chinese mainland cohort.MethodsHomocysteine and uric acid in plasma and cysteine and total homocysteine in ...
Jiangang Zhao +5 more
doaj +4 more sources
A compound heterozygote case of isolated sulfite oxidase deficiency [PDF]
Molecular Genetics and Metabolism Reports, 2017 We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood ...
Daniel Brumaru +4 more
doaj +4 more sources
Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review [version 1; peer review: 2 approved] [PDF]
HRB Open Research, 2021 Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase), the
Niamh McSweeney +6 more
doaj +2 more sources
Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype–phenotype correlations have been established yet.
Jia-Tong Li +3 more
doaj +2 more sources
Prenatal brain disruption in isolated sulfite oxidase deficiency [PDF]
Orphanet Journal of Rare Diseases, 2017 Background Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after ...
Hsiu-Fen Lee +4 more
doaj +2 more sources
Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review [PDF]
BMC Pediatrics, 2019 Background Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX).
Maoqiang Tian +7 more
doaj +2 more sources
Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency. [PDF]
PLoS ONEObjectiveIsolated sulfite oxidase deficiency (ISOD; OMIM #272300) is a devastating rare neurometabolic disorder due to biallelic pathogenic variants in the SUOX gene, that typically results in neonatal refractory epilepsy and progressive severe ...
Laura Göde +3 more
doaj +2 more sources
The role of glutamate oxaloacetate transaminases in sulfite biosynthesis and H2S metabolism
Redox Biology, 2021 Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency are two rare genetic disorders that are caused by impairment of the mitochondrial enzyme sulfite oxidase.
Anna-Theresa Mellis +8 more
doaj +1 more source
Severe isolated sulfide oxidase deficiency with a novel mutation
The Turkish Journal of Pediatrics, 2021 Background. 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.
Meriç Ergene +6 more
doaj +1 more source