Multiple enzyme defects: multiple sulphatases

Multiple sulphatidosis

Chemical Pathology - Enzyme

For the diagnosis of multiple sulphatase deficiency; up to five enzymes are measured (e.g., arylsulphatase A, arylsulphatase B, iduronate sulphatase)

10 mL minimum lithium heparin whole blood

Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection

4 to 6 weeks

Multiple sulphatidosis, Multiple sulphatase deficiency

No