Further evidence of human αa-l-fucosidase polymorphism

Beyer, E.M.; Wiederschain, G.Ya.

doi:10.1016/0009-8981(82)90169-3

Cited by 23 publications

(6 citation statements)

References 13 publications

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“…In human cases, glycolipids and oligosaccharides are the predominant storage materials in the liver and brain, respectively (Beaudet 1983). The hepatocytes of this dog were large, with finely granular cytoplasm, similar to the "balloon or pseudo-gargoyle cells" described in the original human cases The vacuolation of the cytoplasm of many cells was due to the extraction of the residues during fixation and histological processing a-L-fucosidase polymorphism has been demonstrated in man (Beyer and Wiederschain 1982) and animals (Putt and Fisher 1979). In children, different clinical manifestations of fucosidosis have been associated with deficiencies of one or more isoenzymes (Troost et al 1976).…”

Section: Discussionsupporting

confidence: 65%

Fucosidosis in an English Springer Spaniel presenting as a malabsorption syndrome

1985

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A case of alpha-fucosidosis in a 2-year-old male English Springer Spaniel presented as a malabsorption syndrome without any clinical neurological abnormalities. The dog had a history of chronic weight loss, diarrhoea, mild anaemia, hypoproteinemia and reduced jejunal absorption of D-xylose. A diagnosis of fucosidosis with intestinal malabsorption was based on these findings, markedly reduced plasma fucosidase levels and the diffuse infiltration of the lamina propria and submucosa of the stomach, small intestine, Peyer's patches and mesenteric lymph nodes by macrophages with finely vacuolated cytoplasm. Cytoplasmic vacuolation was also a feature of cells of the pancreas, thryroid, parathyroid and adenohypophysis and the epithelia lining respiratory airways and the urogenital tract. Neurons of the autonomic plexuses of the gastrointestinal tract and the urinary bladder as well as those of the brain, spinal cord, spinal ganglia and retina were also vacuolated. The profound decrease in sigma-fucosidase activity in the brain, liver and kidney was accompanied by a marked increase in 6 other lysosomal enzymes, especially beta-n-acetyl glucosaminidase.

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Section: Discussionsupporting

confidence: 65%

Fucosidosis in an English Springer Spaniel presenting as a malabsorption syndrome

1985

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“…We and other investigators have obtained evidence previously on the existence of a-L-fucoddase polymorphism in different organs of man and animals (Turner e? d., 1975;Trinch-Dinch-Khoi et al, 1979;Beyer and Wiederschain, 1982a). We revealed at least five different phenotypic groups of a-L-fucosidase designated by us as phenotypes F1, F2, F'?, F3 and F'3, dissimilar both in the number of components and in their isoelectric points (Beyer and Wiederschain, 1982a).…”

Section: Results a N D Discussionmentioning

confidence: 75%

“…During isoelectrofocusing, a-L-fucosidase of chorion biopsy specimens and abortion chorion was separated into a number of components, reflecting the multiple forms of this enzyme from parenchymatous organs of adult animals and human individuals previously reported by us and other investigators (Wiederschain, 1974;Thorpe and Robinson, 1975;Alhadeff and O'Brien. 1977;Beyer and Wiederschain, 1982a). With the purpose of elucidating to what extent the chorion reflects the composition of a-L-fucosidase and hexosaminidase isoenzyme patterns of fetal organs, we undertook the comparative study of multiple forms of' these enzymes in chorion and various fetal organs.…”

Section: Results a N D Discussionmentioning

confidence: 99%

“…The two enzymes were chosen for the following reasons: both (1 ) are well characterized in some human organs and tissues. (2) possess high activity in human placenta and (3) occur in a variety of forms (Beutler, 1979;Beyer and Wiederschain, 1982a). It is known that the deficiency of or-L-fucosidase or its forms leads to the development of a severe hereditary disease-fucosidosis (Alhadeff and OBrien, 1977;Alhadeff.…”

Section: Introductionmentioning

confidence: 99%

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Activity and multiple forms of α‐L‐fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs

Beyer

Wiederschain

1984

Prenatal Diagnosis

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It was shown that activities and isoenzyme patterns of alpha-L-fucosidase and hexosaminidase were similar in biopsy specimens of chorion obtained immediately before induced abortion in normal pregnancy and in chorion tissue itself. A comparative study of isoenzyme patterns of these glycosidases showed their similarity in chorion and human fetal kidney, liver and lungs. The data obtained may be applied to the investigation of the multiple forms of alpha-L-fucosidase and hexosaminidase in chorion biopsy specimens for the prenatal diagnosis of fucosidosis (alpha-L-fucosidase deficiency), Tay-Sachs diseases (hexosaminidase A deficiency) and Sandhoff disease (deficiency of hexosaminidase A and B).

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“…In the last few years several studies have revealed that the isozyme can be detected in most human tissues and in semen, Offprint requests to: Y. Qingen urine, etc. [2][3][4]. The results suggest that this polymorphism would provide a useful genetic marker the medico-legal grouping of biological materials.…”

Section: Introductionmentioning

confidence: 84%

An improved method for semen ?-l-fucosidase typing ?distribution in the Wuhan population of China

et al. 1989

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An improved method for the separation of the genetic variants of a-L-fucosidase in human semen is described. The method involves, isoelectric focusing in ultrathin-layer PAG containing a mixture of ampholines, pH 5-7 and pH 3.5-9.5, and separator HEPES. The Fu pattern obtained is simple, easy to interpret, and reproducible. The occurrence of fucosidase phenotypes in 189 semen samples from the population of Wuhan was investigated, and the frequencies of the Fu alleles were calculated.Zusammenfassung. Die a-L-Fucosidase (Fn) der menschlichen Spermaproben wurde mittels einer verbesserten Isoelektrofokussierung in einer ultra-dt~nnen Schicht von Polyacrylamidgel (PAG) in einem gemischten pH-Bereich von 5-7 und 3.5-9.5 unter Zusatz von HEPES analysiert. Die erzielten Fu-Muster sind einfach und leicht interpretierbar und reproduzierbar. Bei 189 Spermaproben aus der Bev61kerung Wuhans wurde das Vorkommen der Fu-Ph~inotypen untersucht. Es wurden folgende Genfrequenzen berechnet: Fu 1 = 0.7857 und Fu 2 = 0.2143.

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Further evidence of human αa-l-fucosidase polymorphism

Cited by 23 publications

References 13 publications

Fucosidosis in an English Springer Spaniel presenting as a malabsorption syndrome

Fucosidosis in an English Springer Spaniel presenting as a malabsorption syndrome

Activity and multiple forms of α‐L‐fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs

An improved method for semen ?-l-fucosidase typing ?distribution in the Wuhan population of China

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