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Enzyme replacement therapy improves joint motion and outcome of the 12‐min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation
Author(s) -
Sohn Young Bae,
Park Sung Won,
Kim SeHwa,
Cho SungYoon,
Ji SunTae,
Kwon Eun Kyung,
Han Sun Ju,
Oh Se Jung,
Park Yong Jae,
Ko AhRa,
Paik KyungHoon,
Lee Jeehun,
Lee Dong Hwan,
Jin DongKyu
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35263
Subject(s) - enzyme replacement therapy , bone marrow transplantation , mucopolysaccharidosis , medicine , mucopolysaccharidosis i , mucopolysaccharidosis type ii , transplantation , disease
Mucopolysaccharidosis type VI (MPS VI; Maroteaux–Lamy syndrome, OMIM #253200) is a rare disorder involving multiple organs and manifested particularly by severe skeletal abnormalities. Bone marrow transplantation (BMT) improves cardiopulmonary function and facial features, but has limited success in ameliorating skeletal abnormalities and short stature. Here, we report the outcome of enzyme replacement therapy (ERT) with recombinant human arylsulfatase‐B (ASB, Naglazyme®, BioMarin, Novato, CA) in an MPS VI patient who received BMT 10 years prior to ERT induction. Administration of weekly Naglazyme® for 18 months was effective in improving range of motion in several joints [shoulders (improvement of flexion (Right/Left): 40°/55°; improvement of extension 30°/40°; improvement of abduction 10°/10°), elbows (improvement of flexion 25°/25°; improvement of extension 10°/15°), hips (improvement of flexion 25°/10°), and knees (improvement of flexion 45°/40°; improvement of extension 50°/60°)]. Improvement in the outcome of the 12‐min walk test (70% increase) and 3‐min stair‐climbing test (29% increase) was also noted after ERT. Because ERT improved clinical features in an MPS VI patient who had undergone prior BMT, the role of ERT post successful BMT in MPS VI needs further investigation. © 2012 Wiley Periodicals, Inc.