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Table 2 Results of biochemical tests on the activity of MPS-related enzymes

From: “Genotype-first” approaches on a curious case of idiopathic progressive cognitive decline

Disease subtype Enzyme Gene Value (sister) Value (brother) Reference value Result Unit*
MPSI alpha-L-iduronidase IDUA 26.5 25.1 25.4-118.5 Borderline abnormal nmol/mg/h
MPSII iduronate-2-sulfatase IDS 31.4 32.2 30-120 normal nmol/mg/4 h
MPSIIIA heparan sulfate sulfatase SGSH 5.3 6.3 4.1-12 normal nmol/mg/17 h
MPSIIIB Alpha-N-acetyl-glucosaminidase NAGLU 0.0 0.0 5-22 abnormal nmol/mg/17 h
MPSIVA galactosamine 6- sulfate Sulfatase GAS 72.2 68.1 40-170 normal nmol/mg/17 h
MPSIVB β-galactosidase lacZ 89.2 88.5 50.3-140.7 normal nmol/mg/h
MPSVI arylsulfatase Ars 67.0 49.0 50.4-175.2 normal nmol/mg/h
MPSVII β-glucuronidase GUSB 94.0 98.0 38.1-202.5 normal nmol/mg/h
  1. *concentrations of metabolites (nmol/mg) after hour of incubation.