SGPL1 and sphingolipidosis: SGPL1 is an enzyme that catalyses the breakdown of sphingolipids by cleaving sphingosine‐1‐phosphate.67 Disruption of this enzyme can lead to an accumulation of sphingolipids and ceramide and represents a novel sphingolipidosis (similar to Fabry disease, Gaucher disease and Niemann‐Pick disease; Figure 4A).