title: 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.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Ajou University Hospital, Suwon, Korea.
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Park
authors.forename: Se-Hwa
authors.initials: SH
authors.lastname: Kim
authors.forename: Sung-Yoon
authors.initials: SY
authors.lastname: Cho
authors.forename: Sun-Tae
authors.initials: ST
authors.lastname: Ji
authors.forename: Eun Kyung
authors.initials: EK
authors.lastname: Kwon
authors.forename: Sun Ju
authors.initials: SJ
authors.lastname: Han
authors.forename: Se Jung
authors.initials: SJ
authors.lastname: Oh
authors.forename: Yong Jae
authors.initials: YJ
authors.lastname: Park
authors.forename: Ah-Ra
authors.initials: AR
authors.lastname: Ko
authors.forename: Kyung-Hoon
authors.initials: KH
authors.lastname: Paik
authors.forename: Jeehun
authors.initials: J
authors.lastname: Lee
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Lee
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D000293:Adolescent; D016026:Bone Marrow Transplantation; D056947:Enzyme Replacement Therapy; D005080:Exercise Test; D005145:Face; D005260:Female; D006801:Humans; D007596:Joints / Q000187:drug effects / Q000503:physiopathology*; D009087:Mucopolysaccharidosis VI / Q000188:drug therapy / Q000503:physiopathology* / Q000628:therapy*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000627:therapeutic use*; D016059:Range of Motion, Articular; D016138:Walking
chemical_list: D020051:N-Acetylgalactosamine-4-Sulfatase