PMID- 16715535
OWN - NLM
STAT- MEDLINE
DCOM- 20061212
LR  - 20131121
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 26
IP  - 8
DP  - 2006 Aug
TI  - Prenatal diagnosis of free sialic acid storage disorders (SASD).
PG  - 655-8
AB  - 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.
FAU - Aula, Nina
AU  - Aula N
AD  - Neuroscience Center, University of Helsinki, Finland. nina.aula@helsinki.fi
FAU - Aula, Pertti
AU  - Aula P
LA  - eng
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Organic Anion Transporters)
RN  - 0 (Symporters)
RN  - 0 (sialic acid transport proteins)
RN  - 9007-49-2 (DNA)
RN  - GZP2782OP0 (N-Acetylneuraminic Acid)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Amniotic Fluid/chemistry/metabolism
MH  - Cells, Cultured
MH  - Chorionic Villi/chemistry/metabolism
MH  - Chorionic Villi Sampling
MH  - DNA/analysis
MH  - DNA Mutational Analysis
MH  - Female
MH  - Fetal Diseases/*diagnosis/genetics/metabolism
MH  - Genetic Linkage/genetics
MH  - Humans
MH  - N-Acetylneuraminic Acid/*metabolism
MH  - Organic Anion Transporters/*genetics
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Sialic Acid Storage Disease/*diagnosis/genetics/metabolism
MH  - Symporters/*genetics
EDAT- 2006/05/23 09:00
MHDA- 2006/12/13 09:00
CRDT- 2006/05/23 09:00
PHST- 2006/05/23 09:00 [pubmed]
PHST- 2006/12/13 09:00 [medline]
PHST- 2006/05/23 09:00 [entrez]
AID - 10.1002/pd.1431 [doi]
PST - ppublish
SO  - Prenat Diagn. 2006 Aug;26(8):655-8. doi: 10.1002/pd.1431.