Document Detail


Prenatal diagnosis of congenital sialidosis.
MedLine Citation:
PMID:  8403459     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A case of prenatally diagnosed congenital sialidosis is described in a 21-week-old male fetus, which was the fifth product of non-consanguineous parents. The proband, the second product, was diagnosed as having sialidosis by the enzyme assay in peripheral leukocytes after birth. At the 17th week of pregnancy, the fetus at risk was proven to have isolated sialidase deficiency after analyzing a sample of the cultured amniotic fluid cells. There were many cytoplasmic vacuoles and increased amounts of sialyloligosaccharides in the tissue of the aborted fetus, while the amount and the pattern of gangliosides in the central nervous system were normal.
Authors:
N Sasagasako; S Miyahara; N Saito; N Shinnoh; T Kobayashi; I Goto
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  44     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1993 Jul 
Date Detail:
Created Date:  1993-11-04     Completed Date:  1993-11-04     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  8-11     Citation Subset:  IM    
Affiliation:
Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
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MeSH Terms
Descriptor/Qualifier:
Aged
Amniocentesis
Brain / enzymology
Female
Fetal Diseases / diagnosis*
Fetus / pathology
Humans
Infant, Newborn
Kidney / enzymology
Leukocytes / enzymology
Liver / enzymology,  pathology
Lysosomes / enzymology
Male
Metabolism, Inborn Errors / diagnosis*,  pathology
Neuraminidase / deficiency*
Pregnancy
Prenatal Diagnosis*
beta-Galactosidase / analysis
Chemical
Reg. No./Substance:
EC 3.2.1.18/Neuraminidase; EC 3.2.1.23/beta-Galactosidase

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


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