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 |