GBA1 and hyperinsulinemic hypoglycemia, familial, 4: Biallelic GBA mutations and deficiency lysosomal glucocerebrosidase deficiency result in glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph) accumulation within macrophages (Gaucher cells), with downstream pathology involving the dysfunction in diverse cell types, including neurons, osteoblasts, osteoclasts, and almost every other type of immune cell [10, 11, 12, 13, 14] (Figure 2).