We describe a method for continuous kinetic measurement of hexosaminidase activity, and have applied it to detection of heterozygotes for Tay-Sachs gene. In contrast to existing single-point methods, a ph of 4.5, which is optimal for hexosaminidase activity on the substrate (4-methylumbelliferyl-N-acetyl-beta-d-glucosaminide) is maintained while the increase in fluorescence produced by 4-methyl...

background: glycosidases profusion in male reproductive fluids suggests a possible relationship with sperm function. although hexosaminidase (hex) is the most active glycosidase in epididymal fluid and seminal plasma, as well as in spermatozoa, glucosidase is considered a marker for epididymal function and azoospermia. objective: the aim of this study was to determine hex activity in seminal pl...

background: sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of gm2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. pathogenic mutations in hexb gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of gm2 ga...

Hexosaminidase S (HEX S), the residual isozyme found in tissues and body fluids of children with the O variant of GM2 gangliosidosis, was purified from tissues of variant individuals and biochemically and immunochemically characterized. This enzyme has an apparent molecular weight of 103,000 with an isoelectric point of 4.2, is heat labile to the same extent as HEX A, and loses most of its acti...

BACKGROUND Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient. PATIENT We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented with developmental re...

Exhaled nitric oxide (eNO) is decreased by cigarette smoking. The hypothesis that oxides of nitrogen (NOX) in cigarette smoke solution (CSS) may exert a negative feedback mechanism upon NO release from epithelial (AEC, A549, and NHTBE) and basophilic cells (RBL-2H3) was tested in vitro. CSS inhibited both NO production and degranulation (measured as release of beta-hexosaminidase) in a dose-dep...