Comparative clinical characterization of the new recessive mucopolysaccharidosis-plus disease in the Yakut and Turkish populations

Abstract

MPS is a group of hereditary metabolic diseases associated with impaired glycosaminoglycan (GAG) metabolism, leading to multisystem damage of organs and tissues. Recently, a group of scientists revealed a new hereditary disease with an autosomal recessive inheritance type, belonging to the lysosomal disease group, clinically similar to MPS, with a mutation in the VPS33A gene, called mucopolysaccharidosis plus (MPS-PS) (OMIM # 617303), found in Yakut children, leading to early infant mortality, and also described simultaneously in 2 siblings from Turkey. The newly described c.1492C> T (p.Arg498Trp) mutation in the VPS33A gene is the cause of MPS-plus in both populations.