The clinical aspects of adult hexosaminidase
Withers, "Aspartate 313 in the Streptomyces plicatus hexosaminidase
plays a critical role in substrate-assisted catalysis by orienting the 2-acetamido group and stabilizing the transition state," Journal of Biological Chemistry, vol.
(1,5) In Sandhoff's disease, total hexosaminidase
activity is reduced to less than 2 - 3% of normal, unlike Tay Sachs, where total hexosaminidase
activity is preserved due to functional [beta]-hexosaminidase B activity.
activity was measured in culture supernatants using an NAG activity assay kit (a).
Conditions associated with hepatosplenomegaly like Gaucher disease, hexosaminidase
A deficiency, Sandhoff disease, Niemann-Pick disease type C, Wolman disease, the mucopolysaccharidoses.
(1985) Motor neuron disease and adult hexosaminidase
A deficiency in two families: evidence for multisystem degeneration.
The most known Jewish genetic disease is Tay-Sachs, caused by a deficiency of the enzyme hexosaminidase
Gaucher disease Glucocerebrosidase Neimann-Pick Sphingomyelinase Tay-Sachs [Beta] hexosaminidase
Sandhoff [Beta] hexosaminidase
Fabry [Alpha]-galactosidase Wolman Acid esterase Generalized gangliosidosis [Beta]-galactosidase
: a biochemical marker for necrotizing enterocolitis in the preterm infant," The American Journal of Surgery, vol.
Dashed line indicates the level of [beta]- hexosaminidase
release induced by stimulation with 10ng/mL DNP-HSA alone (c).
fluorometric assays for diagnosis of Tay-Sachs disease have been around for many years and make use of a pair of assays with heat treatment to tease out HexA and HexB activities.