Skip to main content

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.