Hexosaminidase activity was determined in cultured and uncultured amniotic fluid cells taken from seven pregnant women who had previously given birth to infants with Tay-Sachs disease. Complete deficiency of hexosaminidase A was found in one case, indicating a Tay-Sachs fetus. The diagnosis was confirmed on examination of various tissues after therapeutic abortion. Of the other six cases three ...

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 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, ...

Lysosomal enzymes require a mannose 6-phosphate recognition marker, constructed on asparagine-linked oligosaccharide chains, for targeting to lysosomes. We have identified the glycosylation sites of human beta-hexosaminidase B and have determined the influence of individual oligosaccharides on the phosphorylation, lysosomal targeting, and catalytic activity of the enzyme. The five potential gly...

Specific activities of seven acid glycosidases: beta-hexosaminidase, alpha- and beta-galactosidase, alpha- and beta-mannosidase, alpha-glucosidase and alpha-fucosidase were determined in various parts of the domestic hen oviduct (infundibulum, isthmus, shell gland and vagina). The activity of most enzymes was the highest in the isthmus. Multiple forms of all acid glycosidases from the isthmus w...

the mucopolysaccharidoses are a clinically and genetically heterogenous group of lysosomal storage diseases caused by defects in different enzymes for mucopolysaccharid degradation (glycosaminoglycans). except for mucopolysaccharide storage disease type ii (hunter disease), all are transmitted through an autosomal recessive mode of inheritanceinheritance. clinical feature of these metabolic dis...

background: tay-sachs disease (tsd), or gm2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase a (hexa), resulting in lysosomal accumulation of gm2 ganglioside. the aim of this study was to identify the tsd-causing mutations in an iranian population. methods: in this study, we examined 31 patients for tsd-causing mu...

In the assay for hexosaminidase A (Hex A) in leukocytes, cultured fibroblasts, and cultured amniotic fluid cells for the detection of Tay-Sachs disease and carrier identification, bovine serum albumin (BSA) is used (1,2). We find that some BSA preparations are contaminated with hexosaminidase activity. We wish to warn others of this and to show how an incorrect diagnosis could be reached by usi...

Case presentation: Patient R.P.C., birth 06/10/2019, female, referred from pediatric clinic at two years old due to speech regression. In August 2021, she underwent routine funduscopy, prematurity, showing a red cherry spot. her neuropsychomotor development, presented cephalic support three months of age, sat up eight months, walked 11 started two-syllables nine but regressed, and currently onl...

b-Hexosaminidase, which is generally present in the lysosome, is essential for glycoprotein metabolism in the maintenance of cell homeostasis. In mast cells (MCs), large amounts of b-hexosaminidase are present in the granules as opposed to the lysosome, and the biological role of MC b-hexosaminidase has yet to be fully elucidated. Therefore, we investigated the biological role of b-hexosaminida...