Long-term outcomes of enzyme replacement therapy for Taiwanese patients with Mucopolysaccharidosis I

Mucopolysaccharidosis (MPS) I is an autosomal recessive lysosomal storage disorder resulting from a deficiency in the lysosomal enzyme α-l-iduronidase, leading to the accumulation of the glycosaminoglycans (GAGs) dermatan sulfate (DS) and heparan sulfate (HS) in cells throughout the body. The clinical characteristics of MPS I include cognitive impairment (severe form), coarse facial features, corneal clouding, respiratory disorder s, cardiac diseases, hepatomegaly, umbilical and inguinal hernias, skeletal abnormalities, and joint contractures.

Source: Pediatrics and Neonatology - June 9, 2019 Category: Perinatology & Neonatology Authors: Hsiang-Yu Lin, Chung-Lin Lee, Chih-Kuang Chuang, Shuan-Pei Lin Tags: Short Communication Source Type: research