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Table 3 Lysosomal enzyme activities in patients with ML II/III

From: Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

  Case no. Reference range Reference range a
  1 2 5a 6a 7 (nmol/hr/mg) (nmol/min/mL)
Arylsulfatase A
 Plasma 847 312 42 43 2228 NA 0.1–1.6
 Leukocyte 66 26 NA NA 38 25–80 NA
α-N-Acetylglucosaminidase
 Plasma 234 NA 9 NA NA 22.3–60.9 0.1–0.6
 Leukocyte 0.93 NA NA NA NA 0.90–1.51 NA
β-Hexosaminidase
 Plasma 4520 12247 14 13 8196 374–666 0.5–3.1
 Leukocyte 728 482 NA NA 358 611–991 NA
β-Glucosidase
 Plasma 0.7 0.4 NA NA 0.86 NA NA
 Leukocyte 7.0 9.2 NA NA 8.3 5.1–11.32 NA
β-Glucuronidase
 Plasma NA NA 18 19 NA NA 0.1–2.0
 Leukocyte NA NA NA NA NA NA NA
  1. NA not available; aperformed at outside hospital