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) |