Table 2. Distribution of mucopolysaccharidosis (MPS) subtypes and corresponding enzyme activity ( n = 40) .
Type of MPS | No. of patients | Range of enzyme activity (nmol/h/mg protein) | Laboratory reference range (nmol/h/mg protein) |
---|---|---|---|
I IH/IHS/IS |
4 (10) 2/1/1 |
α-L-iduronidase 1–14 |
20–108 |
II | 9 (22.5) | Iduronate-2-sulfatase | |
6 | 0–2.3 | 15–57 | |
1 | 0 | 494–1113 | |
1 | 0.05 | 17–46 | |
1 | 4.5 | 167–475 | |
III A |
7 (17.5) 2 |
Heparan–N-sulfatase 0.17–0.6 |
1.3–6.8 |
B | 4 | α-N-acetylglucosaminidase 0–1.2 |
6–20.5 |
C | 1 | Acetyl CoA: glucosaminide acetyltransferase 0.5 |
11.1–48 |
IVA | 16 (40) | N-acetylgalactoseamine-6-sulphate sulphatase | |
7 | 0–2.9 | 23–283 | |
1 | 12 | 24–205 | |
2 | 0–7 | 23–152 | |
4 | 2.3–8.6 | 40–70 | |
2 | 0–2.1 | 3.9–21 | |
VI | 4 (10) | N-acetyl galactosamine-4-sulfatase | |
1 | 12.6 | 115–226 | |
2 | 6.6–6.8 | 8.4–45.2 | |
1 | 0.12 | 0.6–8.5 |
Abbreviations: IH, Hurler; IHS, Hurler-Scheie; IS, Scheie.
Note: Figures in parentheses represent percentage.