Table 3.
Enzyme activity in affected LSD cases having NIHF
| Disease name | Enzyme | Sample types | No. of patients (n = 7) | ||
|---|---|---|---|---|---|
| CVSa | AFa | POCa | |||
| Mucopolysaccharidosis | |||||
| Hurler disease (MPS-I) | α-Iduronidase | – | 7.5 (n = 1) | 7.9 (n = 1) | n = 2 |
| Sly syndrome (MPS-VII) | β-Glucuronidase | – | UD (n = 1) | 0.6 (n = 1) | n = 2 |
| Sphingolipidosis | |||||
| Gaucher’s disease | β-Glucosidase | 47.46 | – | – | n = 1 |
| Niemann-Pick A (NPD-A) | Sphingomyelinase | – | 3.0 | – | n = 1 |
| Mucolipidosis | |||||
| Mucolipidosis-II | β-Glucuronidase | – | 11.9 | – | n = 1 |
| Hexosaminidase-total | – | 45.9 | – | ||
| β-Galactosidase | – | 37.5 | – | ||
UD undetectable, CVS chorionic villous sample, AF amniotic fluid, POC products of conception
aAll values are in nmol/h/mg protein