enzyme activity showed a positive correlation with the total number of leukocytes and the number of lymphocytes as well as the number of neutrophils (Figure 1c).
The main defect is absence of alpha galactosidase
The [beta]-hexosaminidase, [alpha]-fucosidase, [beta]-mannosidase, [alpha]-mannosidase, [beta]- galactosidase
, and [beta]-glucocerebrosidase enzymatic activities were determined with the corresponding fluorogenic substrate and reaction buffer, as previously reported .
Giedion et al., "Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid fi galactosidase
deficiency," Clinical Genetics, vol.
A 9-year-old female patient was diagnosed with FD by family screening at 5 years of age, mutation c.1244T>C (p.L415P) in heterozygous status, alpha galactosidase
in dried blood spot on filter paper of 1.5 umol/l/h (reference value [greater than or equal to] 4.0).
[24.] Husain Q, Ansari SA, Alam F, Azam A (2011) Immobilization of Aspergillus oryzae I2 galactosidase
on zinc oxide nanoparticles via simple adsorption mechanism.
Lysosomal enzyme testing showed galactocerebroside beta galactosidase
or galactocerebrosidase (GALC) level which was almost undetectable and definitely much below the 99th percentile for age and sex confirming the diagnosis of Krabbe disease.
(1) Cont., control, Man., p-mannanase, Gal., galactosidase
, Mix, [beta]-mannanase+galactosidase.
Effect of protease inhibitors on endogenous or exogenous [beta]-galactosidase in human fibroblasts Inhibitor Protease [beta]- [beta]- Galactosidase Galactosidase
(endogenous) * (exogenous) ** None 100 100 E-64 Thiol 430 229 (Cysteine) *** Leupeptin Thiol 460 222 (Cysteine) *** Antipain Thiol 490 224 (Cysteine) *** Chymostatin Thiol 520 188 (Cysteine) *** Elastatinal Elastase 60 103 Pepstatin Pepsin 100 97 Phosphoramidon Metallopeptidase 110 88 Bestatin Aminopeptidase 110 90 * Relative enzyme activity in human fibroblasts with cathepsin A deficiency (galactosialidosis).
The magnetic particles were then washed and galactosidase
activity on the particles was measured using the detection system as previously described (28).
Zhang, "Production, purification, and characterization of a potential thermostable galactosidase
for milk lactose hydrolysis from Bacillus stearothermophilus," Journal of Dairy Science, vol.
Husain, "Lactosehydrolysis from milk/whey in batch and continuous processes by concanavalin A-Celite 545 immobilized Aspergillus oryzae [beta] galactosidase
," Food and Bioproducts Processing, vol.