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Table 1 Main biochemical findings of the three patients in this study 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

ParameterCase 1Case 2Case 3Normal value
Urine sulfite reaction (age)Positive (9 years)Positive (5 years)Positive(4 years)Negative
Urine sulfite level (age)45 mg/L (9 years)
50 mg/L (9 years and 3 months)
40 mg/L (5 years)
30 mg/L (5 years and 3 months)
100 mg/L (4 years)
25 mg/L(4 years and 3 months)
<  15 mg/L
Homocysteine (age)3.74 μmol/L (9 years)3.17 μmol/L (5 years)2.48 μmol/L (16 months)
2.66 μmol/L (4 years)
5-15 μmol/L
Uric acid (age)255 μmol/L (1 year)269 μmol/L (14 months)400 μmol/L (16 months)208–428 μmol/L
Blood lactate (age)2.4 mmol/L (1 year)5 mmol/L (14 months)2.48 mmol/L (16 months)< 2 mmol/L
Cerebrospinal fluid results
 Cell count (age)10 cells/μl (1 year)5 cells/μl (14 months)8 cells/μl(16 months)< 10cells/μl
 Protein (age)342 mg/L (1 year)159 mg/L (14 months)269 mg/L(16 months)<  450 mg/L
 Glucose (age)3.2 mmol/L (1 year)3.44 mmol/L (14 months)2.95 mmol/L(16 months)> 2.8 mmol/L