Document Detail

Prenatal diagnosis of free sialic acid storage disorders (SASD).
MedLine Citation:
PMID:  16715535     Owner:  NLM     Status:  MEDLINE    
Free sialic acid storage disorders, Salla disease (SD) and Infantile sialic acid storage disease (ISSD), are lysosomal storage diseases due to impaired function of a sialic acid transporter, sialin, at the lysosomal membrane. Several mutations of the sialin gene, SLC17A5, are known, leading either to the severe neonatal/infantile disease or to the milder, adult-type developmental disorder, Salla disease. Free sialic acid accumulation in lysosomes causes increased tissue concentration and consequently elevated urinary excretion. Prenatal diagnosis of SASD is possible either by determination of free sialic acid concentration or by mutation analysis of the SLC17A5 gene in fetal specimen, in chorionic villus biopsy particularly. Both techniques have been successfully applied in several cases, sialic acid assay more often in ISSD cases but mutation analysis preferentially in SD. Sialic acid assay of amniotic fluid supernatant or cultured amniotic fluid cells may give erroneous results and should not be used for prenatal diagnosis of these disorders. The present comments are mainly based on our experience of prenatal diagnosis of SD in Finnish families. A founder mutation in SLC17A5 gene, 115C-> T, represents 95% of the disease alleles in the Finnish SD patients, which provides a unique possibility to apply mutation analysis. Therefore, molecular studies have successfully been used in 17 families since the identification of the gene and the characterization of the SD mutations. Earlier, eight prenatal studies were performed by measuring the free sialic acid concentration in chorionic villus samples.
Nina Aula; Pertti Aula
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  26     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-08-28     Completed Date:  2006-12-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  655-8     Citation Subset:  IM    
Neuroscience Center, University of Helsinki, Finland.
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MeSH Terms
Amniotic Fluid / chemistry,  metabolism
Cells, Cultured
Chorionic Villi / chemistry,  metabolism
Chorionic Villi Sampling
DNA / analysis
DNA Mutational Analysis
Fetal Diseases / diagnosis*,  genetics,  metabolism
Linkage (Genetics) / genetics
N-Acetylneuraminic Acid / metabolism*
Organic Anion Transporters / genetics*
Prenatal Diagnosis
Sialic Acid Storage Disease / diagnosis*,  genetics,  metabolism
Symporters / genetics*
Reg. No./Substance:
0/Organic Anion Transporters; 0/Symporters; 0/sialic acid transport proteins; 131-48-6/N-Acetylneuraminic Acid; 9007-49-2/DNA

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