Furthermore, we detected that three other patients, an infant with GM1 gangliosidosis, an infant with MPS 3A, and an adult with type 2 elliptocytosis, were also carriers of confirmed pathogenic mutations in the SMPD1, SLC17A5, and HEXB genes, respectively (Table 1). The gene discussed is SMPD1; the disease is elliptocytosis 2.