PMID- 21617927
OWN - NLM
STAT- MEDLINE
DCOM- 20120116
LR  - 20211020
IS  - 1573-2665 (Electronic)
IS  - 0141-8955 (Print)
IS  - 0141-8955 (Linking)
VI  - 34
IP  - 5
DP  - 2011 Oct
TI  - Prenatal screening of sialic acid storage disease and confirmation in cultured 
      fibroblasts by LC-MS/MS.
PG  - 1069-73
LID - 10.1007/s10545-011-9351-3 [doi]
AB  - Sialic acid storage disease (SASD) is an inborn error resulting from defects in 
      the lysosomal membrane protein sialin. The SASD phenotypical spectrum ranges from 
      a severe presentation, infantile sialic acid storage disease (ISSD) which may 
      present as hydrops fetalis, to a relatively mild form, Salla disease. Screening 
      for SASD is performed by determination of free sialic acid (FSA) in urine or 
      amniotic fluid supernatant (AFS). Subsequent diagnosis of SASD is performed by 
      quantification of FSA in cultured fibroblasts and by mutation analysis of the 
      sialin gene, SLC17A5. We describe simple quantitative procedures to determine FSA 
      as well as conjugated sialic acid in AFS, and FSA in cultured fibroblasts, using 
      isotope dilution ((13)C(3)-sialic acid) and multiple reaction monitoring 
      LC-ESI-MS/MS. The whole procedure can be performed in 2-4 h. Reference values in 
      AFS were 0-8.2 mumol/L for 15-25 weeks of gestation and 3.2-12.0 mumol/L for 
      26-38 weeks of gestation. In AFS samples from five fetuses affected with ISSD FSA 
      was 23.9-58.9 mumol/L demonstrating that this method is able to discriminate ISSD 
      pregnancies from normal ones. The method was also validated for determination of 
      FSA in fibroblast homogenates. FSA in SASD fibroblasts (ISSD; 20-154 nmol/mg 
      protein, intermediate SASD; 12.9-15.1 nmol/mg, Salla disease; 5.9-7.4 nmol/mg) 
      was clearly elevated compared to normal controls (0.3-2.2 nmol/mg). In 
      conclusion, we report simple quantitative procedures to determine FSA in AFS and 
      cultured fibroblasts improving both prenatal diagnostic efficacy for ISSD as well 
      as confirmatory testing in cultured fibroblasts following initial screening in 
      urine or AFS.
FAU - van den Bosch, Jeroen
AU  - van den Bosch J
AD  - Department Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 50, 
      3015GE, Rotterdam, The Netherlands.
FAU - Oemardien, Linda F
AU  - Oemardien LF
FAU - Srebniak, Malgorzata I
AU  - Srebniak MI
FAU - Piraud, Monique
AU  - Piraud M
FAU - Huijmans, Jan G M
AU  - Huijmans JG
FAU - Verheijen, Frans W
AU  - Verheijen FW
FAU - Ruijter, George J G
AU  - Ruijter GJ
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Validation Study
DEP - 20110527
PL  - United States
TA  - J Inherit Metab Dis
JT  - Journal of inherited metabolic disease
JID - 7910918
SB  - IM
CIN - J Inherit Metab Dis. 2012 Jan;35(1):177. PMID: 22083207
MH  - Amniotic Fluid/chemistry
MH  - Calibration
MH  - Cells, Cultured
MH  - Chromatography, Liquid/methods/standards
MH  - Female
MH  - Fibroblasts/*cytology/*pathology
MH  - Humans
MH  - Pregnancy
MH  - Pregnancy Trimester, Second/metabolism/urine
MH  - Pregnancy Trimester, Third/metabolism/urine
MH  - Prenatal Diagnosis/instrumentation/*methods/standards
MH  - Reproducibility of Results
MH  - Sialic Acid Storage Disease/*diagnosis/pathology
MH  - Tandem Mass Spectrometry/*methods/standards
MH  - Urinalysis/methods
PMC - PMC3173643
EDAT- 2011/05/28 06:00
MHDA- 2012/01/17 06:00
PMCR- 2011/05/27
CRDT- 2011/05/28 06:00
PHST- 2011/03/10 00:00 [received]
PHST- 2011/05/11 00:00 [accepted]
PHST- 2011/05/10 00:00 [revised]
PHST- 2011/05/28 06:00 [entrez]
PHST- 2011/05/28 06:00 [pubmed]
PHST- 2012/01/17 06:00 [medline]
PHST- 2011/05/27 00:00 [pmc-release]
AID - 9351 [pii]
AID - 10.1007/s10545-011-9351-3 [doi]
PST - ppublish
SO  - J Inherit Metab Dis. 2011 Oct;34(5):1069-73. doi: 10.1007/s10545-011-9351-3. Epub 
      2011 May 27.