Lysosomal Enzymes

Purpose: Lysosomal enzymes, testing of reproducibility and ability to detect
enzyme deficiencies in LSD's.
Scientific Expert: Marie Jackson, e-mail: marie.jackson@viapath.co.uk
Scheme Organiser:

Dr. E. van der Hagen e-mail: E.vanderhagen@skbwinterswijk.nl

Analytes: alpha-galactosidase, beta-Galactosidase, alpha-glucosidase, beta-Glucosidase, alpha-N-acetylglucosaminidase, galactosylceramidase, arylsulphatase A, lysosomal acid lipase (acid esterase), palmitoyl protein thioesterase (PPT1), beta-glucurondidase (2020)
Number of Specimens/Year: 6 lyophilised specimens for standard scheme.
Matrix of the Specimens: Lyophilised fibroblasts
Volume/Specimen: 0.5 mg lyophilised protein/standard specimen.
Number of Shipments/Year: One shipment of 6 specimens in February
Submission of Results: Via ERNDIM Interactive Website, 2 times/year, May and September
Reports: Requested from ERNDIM Interactive Website.
Certificate: Once a year issued by ERNDIM board
Number of Participants: 77 (2019)
Status of the Scheme: Pilot phase started in 2006 initiated by the ESGLD.
Regular ERNDIM scheme since 2010
Geographic Area: Worldwide
Limitation Participation: None.
Cost/Year: 638 EURO (2020)
How to subscribe: e-mail: admin@erndim.org
Annual report: Click here for the annual reports
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