Tay-Sachs and Sandhoff diseases are lysosomal storage disorders that result from an inherited deficiency of beta-hexosaminidase A (alphabeta). Whereas the acute forms are associated with a total absence of hexosaminidase A and early death, the chronic adult forms exist with activity and protein levels of approximately 5%, and unaffected individuals have been found with only 10% of normal levels...

Hexosaminidase P, the main isozyme of hexosaminidase in pregnancy serum, was isolated and purified 600-700-fold by a two-step purification procedure-affinity chromatography on Sepharose-bound eaminocaproyl-Nacetylglucosylamine, followed by ion-exchange chromatography on DEAE-cellulose. The purified enzyme was subjected to biochemical and immunochemical analysis. Its catalytic property, namely, ...

Highly purified N-acetyl-beta-D-hexosaminidase B from normal urine and urine of a patient with mucolipidosis III was used to determine whether it has undergone any of the alterations associated with this genetic defect. Examination by sodium dodecyl sulphate/polyacrylamide gel electrophoresis showed that both the enzyme preparations contained protein components with apparent Mr values of 55 000...

Background Tay-Sachs disease is an autosomal-recessive lysosomal storage metabolic disorder. The typical symptoms of the disease include ataxia, muscle weakness, and mental disorders. The severity of the clinical symptom relies on the enzymatic activity of residual Hexosaminidase-A. Case Presentation</...

Serum levels of organochlorine pesticides (OCP) were measured in agricultural workers from Rio de Ja n e i ro St a t e , Bra z i l . Blood samples from 26 volunteers (24 males, 02 females, 1 7 60 years old) were taken in October 1997. OCP residues (op’DDT pp’ D D T, p p’ D D D, p p’ D D E, a l d r i n , d i e l d r i n , e n d r i n , h e p t a c h l o r, h e p t a c h l o re p ox i d e , α, βa...

p-Hexosaminidase (EC 3.2.1.30) is markedly increased in human serum in liver disease, chronic alcoholism, and pregnancy. Knowledge of the clearance rate of plasma! serum #{237}3-hexosaminidase is n cessary to evaluate this increase. We studied the plasma clearance of p3-hexosaminidase isoenzymes (purified from human serum and placenta) after their infusion into rat circulation. A recently devel...

Hexosaminidase activity in prostatic tissue has been compared in 15 patients with benign prostatic hyperplasia and 15 patients with prostatic carcinoma. The ratio of enzymatic activity for the two substrates tested (p-nitrophenyl-2-acetamido-2-deoxy-beta-D-glucopyranoside and p-nitrophenyl-2-acetamido-2-deoxy-beta-D-galactopyranoside) was not significantly different in the two groups of patient...

We have automated a manual test for detection of heterozygotes of Tay-Sachs disease by assay of hexosaminidase A in serum, based on pH inactivation [C/in. Chim. Acta 43, 417 (1973)]. The same manifold is used both for the total hexosaminidase and pH-inactivation (hexosaminidase B) procedures. Automation expedites mass screening of the Ashkenazi Jewish population for carriers of the TaySachs gen...

A protein activator (GMz-activator) specific for stimulating the hydrolysis of G M ~ ganglioside (GalNAcb1 4GalC3 + 2aNeuAc]/?l-+ 4Glcb1-+ 1’Cer) by &hexosaminidase A has been purified over 1OS-fold with a high yield from human liver. The purification procedure includes the adjustment of the pH of liver extract to pH 4.3, followed by ammonium sulfate precipitation, Sephadex G-200 filtration, an...