Enzymological Laboratory

The lysosomal enzyme laboratory provides a national and international diagnostic service for the lysosomal storage disorders (LSD). Enzyme diagnosis focused on a group of sfingolipidoses started in the Czech Republic in the mid eighties of the last century. The spectrum of the enzyme diagnostics has grown to virtually all known lysosomal enzymopathies over the last 20 years and currently offers postnatal and prenatal diagnoses for over 40 different disorders from the group of sfingolipideses, glykoproteinoses, mukopolysaccharidoses and some other rare diseases (mucolipidoses, Wolman disease and CESD, deficiences of saposin activators). In the past three decades, a total of 556 (93 Fabry heterozygots not included) patients have been diagnosed with one of 34 specific types of LSDs in the Czech Republic.

The lysosomal enzyme panel tests for a range of lysosomal storage disorders (see bellow) can be performed either on leukocytes of peripheral blood or on cultured cells (skin fibroblasts) mostly using synthetic analogues of natural enzyme substrates. For screening studies of some LSD, enzyme analysis in dry blood spots has been introduced (Pompe disease, Fabry disease). Some lysosomal hydrolases can be screened also in the blood serum or plasma (ML II/III, Tay-Sachs and Sandhoff diseases). For prenatal diagnosis, chorionic villi or cultivated amniocytes are used. Chromatographic or MS / MS analysis of sphingolipids in urine or in tissue samples is provided as a useful supplementary or screening test.

In close association with other groups, enzyme laboratory is also engaged in different research projects focused on pathobiochemistry and cell biology of LSD and the development of diagnostic methods.

Lysosomal laboratory is accredited according to CSN EN ISO 15189:2013 and is a member of the European Study Group of Lysosomal Disorders and since 2006 is involved in the international system of external quality control QA-ESGLD/ERDNIM.

List of Methods