Document Detail

Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan.
MedLine Citation:
PMID:  20924685     Owner:  NLM     Status:  In-Data-Review    
Information regarding the clinical outcome of enzyme replacement therapy (ERT) with recombinant human N-acetylgalactosamine 4-sulfatase (rhASB) for mucopolysaccharidosis (MPS) VI in Asian patients is limited. We reviewed nine Taiwanese patients with MPS VI (four males and five females; age range 1.4-21.1 years) treated with weekly intravenous infusions of rhASB (1.0 mg/kg) for at least 2 years. We assessed the biochemical and clinical response every 3 months. After 2 years of treatment, seven patients experienced improvement over baseline in the 6-min walk by a mean of 69.3 m (27.3%), and seven also increased the 3-min stair climb by a mean of 47 steps (35.7%). Shoulder range of motion in all patients improved, and Joint Pain and Stiffness Questionnaire scores improved by 0.597 points (30.5%). Four patients had improved pulmonary function [forced expiratory volume in 1 s increased by 0.130 L (26.3%) and forced vital capacity by 0.148 L (27.6%)]. The respiratory disturbance index decreased in the four patients who underwent polysomnography. A mean overall 51% decrease in urinary glycosaminoglycan excretion indicated a satisfactory biochemical response. ERT was well tolerated by all patients. This treatment is thus beneficial and appears to be safe for treatment of MPS VI in Taiwanese patients.
Hsiang-Yu Lin; Ming-Ren Chen; Chih-Kuang Chuang; Chih-Ping Chen; Dar-Shong Lin; Yin-Hsiu Chien; Yu-Yuan Ke; Fuu-Jen Tsai; Hui-Ping Pan; Shio-Jean Lin; Wuh-Liang Hwu; Dau-Ming Niu; Ni-Chung Lee; Shuan-Pei Lin
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Publication Detail:
Type:  Journal Article     Date:  2010-10-06
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  33 Suppl 3     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2013-08-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  421-7     Citation Subset:  IM    
Department of Pediatrics, Mackay Memorial Hospital, No.92, Sec. 2 Chung-Shan North Road, Taipei, 10449, Taiwan.
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