Table 1 Main biochemical findings of the three patients in this study with late-onset mild ISOD

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

 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