Cerebroside sulfatase activity in cultivated human skin fibroblasts and amniotic fluid cells

Booth, Carol W.; Chen, Kathy K.; Nadler, Henry L.

doi:10.1016/s0022-3476(75)80147-8

Cited by 8 publications

(1 citation statement)

References 17 publications

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“…The severe clinical manifestations and the absence of an effective therapy make this group of sulphatide-lipidoses a major indication for prenatal diagnosis. Prenatal diagnosis of MLD is possible by ASA determination on cultured amniotic cells obtained by amniocentesis (Booth et al, 1972;Leroy et al, 1973;Van Der Hagen, 1973;Rattazzi and Davidson, 1977) or, in some late-presenting pregnancies, on fetal blood collected at fetoscopy (Rodeck et al, 1983). The main disadvantage of these methods is the late pregnancy termination in the case of an affected fetus.…”

Section: Summary: Prenatal Diagnosis Of Metachromatic Leukodystrophy mentioning

confidence: 99%

First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by ‘Immunoprecipitation—electrophoresis’

Poënaru

Castelnau

Besançon

et al. 1987

J of Inher Metab Disea

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Prenatal diagnosis of metachromatic leukodystrophy (MLD) due to arylsulphatase A (ASA) deficiency can be performed by amniocentesis with the disadvantage of a late pregnancy termination. Whether chorionic villi (CV) obtained by trophoblast biopsy during the first trimester of pregnancy can be useful for diagnosis depends on the reliability of results. The complexity of arylsulphatase expression in CV and the existence of several isozymes make diagnosis difficult. However, the use of an anti-ASA antiserum enabled us to discriminate between ASA and a comigrating contaminant isozyme, and the antigen-antibody (Ag-Ab) complex gave better evidence of the presence or absence of ASA after enhancement of activity with 4-methylumbelliferyl sulphate (4-MUS). We propose that immunoprecipitation followed by electrophoresis could be a valuable method of MLD prenatal diagnosis on chorionic villi.

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Section: Summary: Prenatal Diagnosis Of Metachromatic Leukodystrophy mentioning

confidence: 99%