期刊
MOLECULAR GENETICS AND METABOLISM
卷 103, 期 3, 页码 300-302出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2011.03.024
关键词
mucopolysaccharidosis type VI; Maroteaux-Lamy syndrome; attenuated phenotype
We describe the case of a boy recently diagnosed with an attenuated form of mucopolysacchararidosis VI (MPS VI, Maroteaux-Lamy syndrome). The Y210C mutation has not been described previously in the homozygous state, although this is a common ARSB mutation. His phenotype is essentially musculoskeletal. Urine screening tests based on measuring total GAG may miss this presentation as total GAGs were not elevated in the patient (although the electrophoresis pattern was clearly abnormal). In this phenotype the benefit of ERT remains to be established. (C) 2011 Elsevier Inc. All rights reserved.
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