Lysosomal Storage Diseases

Test Required specimen & volume Special precautions Turnaround time Reference ranges Section
Lysosomal enzyme screen
16 different lysosomal storage disorders*
5ml EDTA To reach the laboratory within 72 hours of venepuncture 4 working weeks See individual enzymes Lysosomal

The following enzyme analyses are performed as a group lysosomal disorder screening test. The minimum sample required is 5mls of whole blood in an EDTA specimen tube. Please post specimens early in the week to avoid samples being delayed over the weekend. All relevant clinical information should be provided with the sample. The following enzymes are routinely assayed:

Lysosomal enzyme screen — N.B. does not screen for MPS disorders
  • Plasma chitotriosidase (non-specific marker for lysosomal storage disorders)
  • Plasma β-hexosaminidase (Sandhoff disease, I-Cell disease)
  • Plasma β-mannosidase (β-Mannosidosis, I-Cell disease)
  • Plasma β-hexosaminidase A [MUGS] (Tay-Sachs disease)
  • Plasma aspartylglucosaminidase (Aspartylglucosaminuria)
  • Leucocyte β-glucuronidase (Sly disease, MPS VII)
  • Leucocyte β-galactosidase (GM1-gangliosidosis)
  • Leucocyte α-mannosidase (α-Mannosidosis)
  • Leucocyte α-galactosidase (Fabry disease)
  • Leucocyte α-fucosidase (Fucosidosis)
  • Leucocyte acid esterase (Wolman/Cholesterol ester storage disease)
  • Leucocyte arylsulphatase A (Metachromatic Leucodystrophy)
  • Leucocyte β-glucosidase (Gaucher disease)
  • Leucocyte sphingomyelinase (Niemann-Pick types A & B)
  • Leucocyte galactocerebrosidase (Krabbe Leucodystrophy)
  • Leucocyte N-acetyl-α-galactosaminidase (Schindler disease)