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Table 1 Laboratory results

From: Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

Urinary GAGs 235 μg GAGs/mg creatinine (NR: 13–45)
Activity of arylsulfatase B in leukocytes (colorimetric assay with artificial substrate) 6 nmol/hour/mg protein (NR: 72–176)
Activity of alpha-iduronidase in leukocytes (colorimetric assay with artificial substrate) 53 nmol/17 hour/mg protein (NR: 32–56)
Activity of iduronate sulfatase in plasma (colorimetric assay with artificial substrate) 292 nmol/4 hour/ml (NR: 122–463)
Molecular genetics analysis of the ARSB gene Missense mutation c.944G > A (p.R315Q) in exon 5 (paternal inheritance) Frameshift mutation c.1534del23 in exon 8 (maternal inheritance)
  1. GAGs glycosaminoglycans, NR normal range values