Document Detail


Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.
MedLine Citation:
PMID:  1064728     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells, we have monitored two pregnancies from families at risk for Pompe's disease. The fetus was judged to be affected in one, the pregnancy being terminated and unaffected in the other. The accuracy of these predictions was confirmed. These results suggest that this assay allows accurate prenatal diagnosis of Pompe's disease, three weeks after diagnostic amniocentesis.
Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease was studied. 2 pregnancies in families at risk for Pompe's disease were monitored using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells. In 1 pregnancy the fetus was judged to be affected and was confirmed after termination. In the other the fetus was judged not to be affected and was confirmed at 12 months of age. These results suggest that this assay for alpha-glucosidase activity on amniotic cells collected at amniocentesis and cultured for about 3 weeks allows accurate prenatal diagnosis of Pompe's disease.
Authors:
A H Fensom; P F Benson; S Blunt; S P Brown; T M Coltart
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  13     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1976 Apr 
Date Detail:
Created Date:  1976-08-23     Completed Date:  1976-08-23     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  148-9     Citation Subset:  IM; J    
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MeSH Terms
Descriptor/Qualifier:
Amniotic Fluid / cytology,  enzymology*
Female
Glucosidases / metabolism*
Glycogen Storage Disease / enzymology*
Glycogen Storage Disease Type II / diagnosis,  enzymology*
Humans
Pregnancy
Prenatal Diagnosis*
Chemical
Reg. No./Substance:
EC 3.2.1.-/Glucosidases
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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