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

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

doi:10.1002/pd.1970040107

Cited by 15 publications

(3 citation statements)

References 9 publications

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“…The use of chorionic villus biopsy material has been reported for the assay of lysosomal enzymes (Beyer and Wiederschain, 1984;Kleijer et al, 1984 ;Tsvetkova et al, 1983;Simoni et al, 1983). The detection of hemoglobinopathies by restriction endonuclease analysis of DNA has also been reported (Old et al, 1982).…”

Section: Introductionmentioning

confidence: 99%

Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

et al. 1986

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We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotin-dependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. The other enzymes, 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved in the degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in which there is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.

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Section: Introductionmentioning

confidence: 99%

Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

et al. 1986

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“…Acid β‐glucosidase for Gaucher disease was measured using 4‐MU‐β‐ D ‐glucopyranoside (Sigma‐Aldrich, St. Louis, Missouri) . Fucosidosis was measured using the fluorogenic substrate 4‐MU‐α‐ L ‐fucoside (Sigma‐Aldrich, St. Louis, Missouri) . Galactocerebrosidase for Krabbe disease was measured using 6‐hexadecanoylamino‐4‐MU‐β‐ D ‐galactoside (Moscerdan Substrates, Rotterdam, Netherlands) .…”

Section: Methodsmentioning

confidence: 99%

Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis

Lin

Huang

et al. 2018

Prenatal Diagnosis

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“…For x-linked disorders DNA hybridization can be used to detect the presence of Y-chromosome DNA in the villi (26). Enzyme studies for inborn errors (7), and karyotyping for chromosome abnormalities can be carried out following short culture. The Rh type of a fetus from an Rh negative mother has also been determined by antigen studies of erythrocytes in the biopsy specimen (40).…”

Section: Diagnosis and Treatment Involving Recombinant Dna Techniquesmentioning

confidence: 99%

Screening for Congenital Abnormalities

Holtzman

1985

Int J Technol Assess Health Care

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Improvements in nutrition, sanitation, housing, and medical care have been associated with reductions in infectious diseases of infancy, such as diarrhea, and, concomitantly, with a decline in infant mortality. Although deaths from congenital abnormalities have also decreased, the rate of their decline has not kept pace with the overall rate. Thus in the United States they have become the most frequent cause of infant death (58). For abnormalities detected in the newborn period, which comprise 3% of all births, about 8 per cent are due to single gene disorders, 6 to 12% to chromosome abnormalities, and less than 5% to viral infections of the mother (39,69). Little is known about underlying causes in the remainder; polygenic factors, environmental agents, and, probably the most common, genetic-environmental interactions, account for them. Congenital abnormalities also contribute substantially to childhood hospitalizations in several developed countries (17). One chromosome disorder, Down's syndrome, accounts for about 16 to 30% of all severe mental retardation, with other genetic and chromosome disorders contributing another 15 to 20% (58). Although the incidence of congenital abnormalities differs to some extent geographically (39), it seems likely that as any country develops, the proportion of infant mortality and childhood disability due to congenital abnormalities will increase.

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

Cited by 15 publications

References 9 publications

Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis

Screening for Congenital Abnormalities

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