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Table 2 Summary of cases with late-onset mild ISOD

From: Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review

ReferenceCase 1Case 2Case 3Shih VE et al., 1977 [7]Van der Klei-Van et al., 1991 [13]Barbot et al., 1995 [8]TouatiG et al., 2000 [9]TouatiG et al., 2000 [9]Del RizzoM et al., 2013 [10]Rocha et al.,2014 [11]
Age of onset/sex12 months /male14 months /female16 months /male17 months /male11 months /male3 months /female15 months /male8 months /female12 months /female12 months /female
Perinatal period/ family historyNormal/ unremarkableNormal/ unremarkableNormal/ unremarkableNormal/ unremarkableNormal/ unremarkableNormal/ unremarkableNormal/ unremarkableNormal/ a elder sister with ISODNormal/ unremarkableNormal/ unremarkable
Age in report (year)9.55.54.56.5174 years and 5mon3 years and 2mon2 years and 6 mon4
Clinical featuresRapid regression of acquired motor skills and cognition, dystoniaPoor response and experienced one generalized brief seizure, dystoniaRegression of motor and mental skills and choreoathetoid movements, dystoniaPsychomotor retardation, choreiform movement of right side of bodyPsychomotor retardation,choreiform movementChoreoathetoid movements, lost transiently headcontrolChoreoathetoid movements, inability to walk, hyperkinesiaSlight motor delay, moderate axial hypotoniaPsychomotor retardation,acute left hemiparesis, generalized mild hypotoniaPsychomotor retardation,trunk and gait ataxia, generalized hypotonia
Ectopialentis (year)No ectopialentis (9.5)No ectopialentis (5.5)No ectopialentis (4.5)Yes (4)NANo ectopialentis (7)No ectopialentis (4 years and 5 months old)Yes (8 months)NAYes (3 years and 10 months)
Laboratory finding
 Urine sulfite test (normal values)45, 50 (< 15)30, 40 (< 15)25, 100 (< 15)13.8(ND)12(ND)P (negative)P (negative)P (negative)30(ND)P (negative)
S-sulfocysteine plasma/urine (normal values)NoNoNo26 (0)/NA24(ND)/1.7 (0–0.2)20 (0)/220 (0)stronglyelevated20 (0)/NA28 (0)/313 (0)141(0–0.1)/NA
 Plasma total homocysteine3.74 (normal 5–15)3.17 (normal 5–15)2.48, 2.66 (normal 5–15)NANANANANA< 1(normal> 4)0.6 (normal> 4)
Uric acid (μmol/L)NormalNormalNormalNA175(normal)Normal148 (normal)220 (normal)NANA
 Sulfite oxidase activityNoNoNoNo activity was detectedTotally absentCompletely absentNDNDNDND
 Neuroimaging findingsMRI, hyperintense signal of bilateral globus pallidi, and substantia nigraMRI, hyperintense signal of bilateral globus pallidi, and substantia nigraMRI, hyperintense signal of bilateral globus pallidi, and substantia nigraNAHead computed tomography, no abnormalitiesMRI, symmetrical involvement of the globus pallidus, cerebello medullary enlargedMRI, hypodensity of the white matter and frontal lobesNAMRI, mild cerebral atrophy and asymmetric stroke-like lesions of the globus pallidusMRI, hyperintense signal of bilateral globus pallidi, together with cerebral peduncle involvement
Gene test results
 Nucleotide, proteinc.1096C > T, p.R366C; c.1376G > A, p.R459Qc.1096C > T, p.R366C; c.1376G > A, p.R459Qc.1096C > T, p.R366C; c.1376G > A, p.R459QNoNoNoNoNoc.427C > A, p.H143Nc.182 T > C;
p.L61P
 DomainHomodimerization and Moco domainHomodimerization and Moco domainHomodimerization and Moco domainNoNoNoNoNoHomodimerizationTransit peptide
 Dietary treatment (duration)NoNoNoYes (5 years)NAYes (2 weeks)Yes (2 years)Yes (2 years)Yes(18 months)Low protein diet (NA)
 OutcomesHis performance in school was normal. He had unsteady gait follow up till age of 9.5She could walk several steps without support with an unsteady gait. Her vocabulary was normal follow up till age of 5.5He could only speak a few words but had good language comprehension follow up till age of 4.5Improvement in biochemical and clinical resultsNASlowly progressive neurology disorder with ataxic gait, dystonia, and choreoathetoid movementsBecame much more calm and less aggressive, and started to talkProgressing well. She walked alone at 21 months, and started to speakat 2 yearsBiochemicalimprovement was observed with progressive clinical ameliorationSlight truncal ataxia. No further episodes were observed over the next thirteen months
  1. Abbreviations are as follows: ISOD isolated sulfite oxidase deficiency, MRI magnetic resonance imaging, NA not available, UD undetectable, No not performed, P positive