Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
Journal
Pediatrics and Neonatology
Journal Volume
60
Journal Issue
3
Pages
342-343
Date Issued
2019
Author(s)
Lin, Hsiang-Yu
Chuang, Chih-Kuang
Ke, Yu-Yuan
Hsu, Chia-Chi
Chiu, Pao Chin
Niu, Dau-Ming
Tsai, Fuu-Jen
Lin, Ju-Li
Abstract
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome; OMIM 253000) is a rare autosomal-recessive inherited disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency which leads to excessive lysosomal storage of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate in various tissues and organs. The clinical manifestations include corneal clouding, hearing loss, valvular heart disease, systemic skeletal chondrodysplasia, malformation of the thorax that impairs respiratory function, short stature, joint abnormalities with limitations in mobility and endurance, odontoid hypoplasia and ligamentous laxity, cervical spinal instability and potentially cord compression.
Publisher
Elsevier (Singapore) Pte Ltd
Type
journal article