Lysosomal enzymes
Clinical Background:
Inherited deficiencies of lysosomal enzymes usually cause the accumulation of incompletely catabolized substrates within the organelle and progressive impairment of the function of affected cell sy...
Inherited deficiencies of lysosomal enzymes usually cause the accumulation of incompletely catabolized substrates within the organelle and progressive impairment of the function of affected cell systems (e.g. connective tissue, solid organs, cartilage, bone and, above all, nervous tissue). The cell and consequently the whole organ ‘swells’ causing typical organomegaly and other morphological features. There is clinical overlap between different disease groups and the age of manifestation may be variable.
Analysis of a panel of lysosomal enzymes is a useful screening test for lysosomal storage disorders. The test does not diagnose mucopolysaccharide disorders, neuronal ceroid lipofuscinoses or Niemann Pick C. See separate pages for tests for these disorders. If a specific disorder is suspected, please contact the metabolic laboratory to discuss.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA whole blood
EDTA whole blood
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Specimen Container Paediatric:
EDTA whole blood
EDTA whole blood
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Minimum Volume Adult:
5 -10 mL blood
5 -10 mL blood
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Minimum Volume Paediatric:
5 -10 mL blood
5 -10 mL blood
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Special Requirement:
Must reach RVI lab for processing within 24 hours (and before 2pm on Friday)
Please notify laboratory first (ext: 20334)Must reach RVI lab for processing within 24 hours (and before 2pm on Friday)
Please notify laboratory first (ext: 20334) -
Transport Requirements:
Transport at room temperature
Transport at room temperature
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Interpretation:
An interpretation of the results is provided with each report.
An interpretation of the results is provided with each report.
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Reference Ranges:
Provided on report
Provided on report
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Other Info:
The lysosomal enzymes panel includes the following tests:
Plasma chitotriosidase (non-specific marker for lysosomal storage disorders)
Plasma β-hexosaminidase ...
Read MoreThe lysosomal enzymes panel includes the following tests:
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 (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)
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: