Table 2.
Clinical and biochemical features of liver expression in selected lysosomal diseases with diagnostics methods (“+”; present).
| Disease | Liver Enlargement | Increased Transaminases Activity | Cholestasis | Acute Liver Failure | Liver Steatosis | Liver Fibrosis/Cirrhosis | Liver Cancer | Diagnostics |
|---|---|---|---|---|---|---|---|---|
| Gaucher disease (GD) | + | + Rarely |
HCC casuistically |
β-glucocerebrosidase activity in peripheral blood leukocytes/skin fibroblasts/dried blood spot (DBS); Lyso-Gb1 in DBS; Chitotriosidase in blood serum or DBS; Molecular testing (GBA1 gene). |
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| ASMD | + | + | + Infantile type |
+ Casuistically |
Acid sphingomyelinase activity in peripheral blood leukocytes/skin fibroblasts/DBS; Lysosphingolipids, i.e., lyso-SM and lyso-SM-509 in DBS, determined by LC-MS/MS, Chitotriosidase in blood serum; Molecular testing (SMPD1 gene) |
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| LAL deficiency (LAL-D) | + | + | + Wolman disease |
+ | + | Lysosomal lipase (LAL) activity in peripheral blood leukocytes/skin fibroblasts/DBS; Chitotriosidase in blood serum; Molecular testing (LIPA gene). |
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| Niemann–Pick type C disease (NPC) | + | + | + | + Congenital type |
+ | HCC | Lysosphingolipids, i.e., lyso-SM and lyso-SM-509 in DBS, determined by LC-MS/MS, and oxysterols (cholestane-3β, 5α, 6β-triol, 7-ketocholesterol); Chitotriosidase in blood serum; Molecular testing (NPC1, NPC2 genes). |