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Type: Journal article
Title: Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Author: Swiedler, S.
Beck, M.
Bajbouj, M.
Giugliani, R.
Schwartz, I.
Harmatz, P.
Wraith, J.
Roberts, J.
Ketteridge, D.
Hopwood, J.
Guffon, N.
Miranda, C.
Teles, E.
Berger, K.
Piscia-Nichols, C.
Citation: American Journal of Medical Genetics Part A, 2005; 134A(2):144-150
Publisher: Wiley-Liss
Issue Date: 2005
ISSN: 1552-4825
Statement of
Stuart J. Swiedler, Michael Beck, Manal Bajbouj, Roberto Giugliani, Ida Schwartz, Paul Harmatz, James E. Wraith, Jane Roberts, David Ketteridge, John J. Hopwood, Nathalie Guffon, M. Clara Sá Miranda, Elisa Leão Teles, Kenneth I. Berger, Cheri Piscia-Nichols
Abstract: A cross-sectional survey in individuals affected with the lysosomal storage disease Mucopolysaccharidosis VI (MPS VI) was conducted to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of the disease. The survey evaluated 121 bona fide MPS VI-affected individuals over the age of 4 years from 15 countries across the Americas, Europe, and Australasia representing greater than 10% of the estimated world prevalence of the disease. A medical history, complete physical exam, urinary GAG determination, and assessment of several clinical measures related to physical endurance, pulmonary function, joint range of motion, strength, and quality of life were completed for each participant. Although a wide variation in clinical presentation was observed, several general findings were obtained reflecting progression of the disease. Impaired physical endurance, as measured by the distance achieved in a 6-min walk, could be demonstrated across all age groups of MPS VI-affected individuals. High urinary GAG values (>200 mug/mg creatinine) were associated with an accelerated clinical course comprised of age-adjusted short stature and low body weight, impaired endurance, compromised pulmonary function, and reduced joint range of motion. An unexpected result was the predominance of urinary GAG values <100 mug/mg creatinine for those participants over the age of 20 years. Pending the collection of longitudinal data, these results suggest that urinary GAG levels predict clinical morbidity, and longer-term survival is associated with urinary GAG levels below a threshold of 100 mug/mg creatinine.
Keywords: Humans
Mucopolysaccharidosis VI
Disease Progression
Heart Function Tests
Respiratory Function Tests
Range of Motion, Articular
Health Surveys
Data Interpretation, Statistical
Cross-Sectional Studies
Visual Acuity
Quality of Life
Middle Aged
Child, Preschool
Surveys and Questionnaires
Rights: © 2009 Wiley-Liss, Inc., A Wiley Company
DOI: 10.1002/ajmg.a.30579
Appears in Collections:Aurora harvest 6
Paediatrics publications

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