A fatal lysosomal disease resembling mucopolysaccharidosis, caused by a missense mutation in VPS33A gene NM_022916.5:c.1492C>T (c.1492C>T); NP_075067.2:p.Arg498Trp (p.Arg498Trp), has recently been identified in infants of Turkish and Yakutian ethnic background: this has been named mucopolysaccharidosis plus (MPSPS; MIM# 610034) (Dursun et al., 2017; Kondo et al., 2017; Pavlova et al., 2019). This evidence concerns the gene VPS33A and mucopolysaccharidosis.