Salival α-iduronidase activity as a potential new biomarker for the diagnosis and monitoring the effect of therapy in mucopolysaccharidosis i

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive inherited deficiency of the enzyme α-iduronidase (IDUA; EC 3.2.1.76), which leads to accumulation of glycosaminoglycans within the lysosomes. MPS-I includes a spectrum of clinical phenotypes ranging from mild to severe. Hurler syndrome (MPS-1H) represents the most severe subtype, resulting in progressive and ultimately fatal multisy stem disease.1,2 At present, haematopoietic cell transplantation (HCT), based on the principle of cross-correction, is the only treatment able to prevent deterioration of the central nervous system.

Source: Biology of Blood and Marrow Transplantation - June 12, 2018 Category: Hematology Authors: Jaap van Doorn, Brigitte T.A. van den Broek, Ans J. Geboers, G é-Ann Kuiper, J.J. Boelens, Peter M. van Hasselt Source Type: research