Awareness of attenuated mucopolysaccharidoses in a pediatric orthopedic clinic
Mucopolysaccharidosis (MPS) I is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme α-l-iduronidase, leading to widespread accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and heparan sulfate in all tissues and organs. The clinical presentations of MPS I include learning difficulties (severe form), corneal clouding, coarse facial features, recurrent ear , nose, and throat infections, airway obstruction, valvular heart disease, umbilical and inguinal hernias, joint stiffness and skeletal deformities.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Hsiang-Yu Lin, Chih-Kuang Chuang, Shih-Chia Liu, Shuan-Pei Lin Tags: Short Communication Source Type: research
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