MPS Enzyme Assays
Mucopolysaccharidoses are initially screened for using two dimensional electrophoresis of glycosaminoglycans extracted from urine, please see Mucopolysaccharide Screen tab for information. Enzymology for MPS disorders is generally performed after an initial MPS urine screen shows an abnormal result unless there is a previous family history of a specific disorder, in these cases enzymology can be performed prior to urine analysis.
| Test | Required specimen & volume | Special precautions | Turnaround time | Reference ranges | Section |
|---|---|---|---|---|---|
|
α-iduronidase MPS I, Hurler syndrome, Scheie syndrome, Hurler/Scheie syndrome |
5ml EDTA, CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 2 working weeks |
White cells 10 – 50 nmol/mg/hr
Other tissues, assay controls quoted |
Lysosomal |
|
Iduronate sulphatase MPS II, Hunter syndrome |
5ml EDTA, CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 3 working weeks | Plasma 494 – 1113 nmol/ml/4hr
Other tissues, assay controls quoted |
Lysosomal |
|
Heparan sulphamidase MPS IIIA, Sanfilippo A syndrome |
5ml EDTA, CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 3 working weeks | Leucocytes 3.2 – 20 nmol/mg/17hr
Other tissues, assay controls quoted |
Lysosomal |
|
α-N-acetylglucosaminidase MPS IIIB, Sanfilippo B syndrome |
5ml EDTA CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 3 working weeks | Plasma 10 – 45 nmol/ml/hr
Other tissues, assay controls quoted |
Lysosomal |
|
Acetyl-CoA:α-glucosaminide N-acetyltransferase MPS IIIC, Sanfilippo C syndrome |
5ml EDTA, CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 3 working weeks | Assay control values quoted | Lysosomal |
|
Galactose-6-sulphatase MPS IVA, Morquio syndrome |
5ml EDTA, CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 3 working weeks | Leucocytes 45 – 240 nmol/mg/17hr
Other tissues, assay controls quoted |
Lysosomal |
|
β-galactosidase MPS IVB, Morquio syndrome & GM1-gangliosidosis |
5ml EDTA, CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 3 working weeks |
Leucocytes 100 – 400 nmol/mg/hr
Other tissues, assay controls quoted |
Lysosomal |
|
Arylsulphatase B MPS VI, Maroteaux-Lamy syndrome |
10ml EDTA, CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 3 working weeks | Assay control values quoted | Lysosomal |
|
β-glucuronidase MPS VII, Sly’s syndrome |
5ml EDTA, CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 3 working weeks |
Leucocytes 100 – 800 nmol/mg/hr
Other tissues, assay controls quoted |
Lysosomal |
|
Multiple sulphatases Multiple sulphatase deficiency |
5ml EDTA, CC, AFC, CCV, CVS | To reach the laboratory within 72 hours of venepuncture | 3 working weeks | Various, dependent on which enzymes analysed.
In assay control values quoted. |
Lysosomal |