Sphingolipids

Sphingolipids are specialized lipids which function in lipid rafts located in the cell membrane. Their distribution is highly tissue specific. Genetic defects of lysosomal hydrolases and associated activator proteins required for sphingolipid degradation cause a specific group of lysosomal disorders referred to as sphingolipidoses. These diseases show a wide variety in clinical symptoms and age at onset, but share some common clinical symptoms which include organomegaly and neurological manifestations. Screening for these sphingolipidoses can be performed by measurement of accumulating storage products and/or increased activity of the macrophage activation markers chitotriosidase and CCL-18 and can be confirmed by measuring specific enzyme activities.