Patients | Free NeuAc (nmol/mg pr) NR=0.2–1.8 | [35S]Sulphate incorporation (ratio patient/control; pericellular pool between brackets) NR=0.6–1.6 | Glucuronate-2- sulphatase (nmol/mg/h) NR=28–150 |
---|---|---|---|
Free sialic acid content was measured according to Mancini et al.18 | |||
Sulphate incorporation was measured according to Fortuin and Kleijer.16 The results represent the ratio between patient and control cell associated radioactivity. Between brackets are the values of cell bound radioactivity obtained after trypsinisation of fibroblasts at the end of the incubation with [35S]NaSO4. Fibroblasts from a Hurler patient as internal control showed an abnormal ratio of 4.3 for intracellular and 2.1 for pericellular sulphurylated mucopolysaccharides. | |||
Glucuronate-2-sulphatase was assayed with a novel 4-methyl-umbelliferyl substrate synthesised by an adaptation of the method of Voznyi et al24 at pH 4.0 at 37°C. ND=not determined. | |||
1 | 0.4 | 1.6 (1.1) | 47 |
2 | 0.6 | 0.8 (1.5) | 57 |
3 | 0.8 | 0.8 (1.2) | 81 |
4 | 0.4 | 1.2 (ND) | 85 |
5 | 0.5 | 1.2 (ND) | 148 |