146 Glycogen Metabolism In Chorionic Villous Samplings: Possibilities For Prenatal Diagnosis Of Glycogen Storage Diseases View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1986-10

AUTHORS

Y Shin, J Friedel, A Besser, M Rieth, J Gerg, W Endres

ABSTRACT

Various enzymes of which the deficiency causes a type of glycogenoses have been investigated in 20 control samplings of chorionic villi (CVS) between 8 and 12 weeks of gestation. Except glucose 6-phosphatase which is either not expressed or not yet developed, the activity of seven enzymes were well measurable in CVS. The glycogen content was 0.2-0.8 g per 100 g CVS; the activity of 1, 4-α-glucosidase (4G), 3.0-16.0 nmol/min/mg protein (U); amyloglucosidase (6G), 0.12-0.56 U; brancher, 0.40-0.95 U; phosphorylase (PL), 0.2-1.5 U (a form) or 3.0-15.0 U (total); phosphorylase kinase (PK), 1.3-7.0 μmol/min/mg protein; phosphofructokinase (PF), 1.8-8.5 U; glycogen synthase, 0.1-0.3 U (I-form) or 0.4 -3.0 U (D-form). Prenatal diagnosis of M.Pompe was performed in a pregnancy at risk by chorionic biopsy at the 8th week as well as by amnioscentesis at the 17th week. The 4G activity in CVS and in amniotic cells was in the range of heterozygotes, as was in leucocytes of cord blood at birth. Glyocgenosis type III can also be diagnosed prenatally by direct assay of 6G in CVS. Investigation of PL, PK and PF was done by isoelectrofocusing and kinetic studies in order to explore diagnostic ways of severe forms of respective deficiencies. More... »

PAGES

1058

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-198610000-00201

DOI

http://dx.doi.org/10.1203/00006450-198610000-00201

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1027915137


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