Gaucher disease is an autosomal recessive metabolic disorder secondary to genetic deficiency of the lysosomal enzyme glucocerebrosidase, which allows for the accumulation of its natural substrate glucosylceramide and its deacylated product glucosylsphingosine in the lysosomes of macrophages. This evidence concerns the gene GBA1 and hyperinsulinemic hypoglycemia, familial, 4.