Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.

@article{Inoue2002RapidAS,
  title={Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.},
  author={Yoshito Inoue and Tomiko Kuhara},
  journal={Journal of chromatography. B, Analytical technologies in the biomedical and life sciences},
  year={2002},
  volume={776 1},
  pages={
          71-7
        }
}
  • Y. Inoue, T. Kuhara
  • Published 25 August 2002
  • Biology
  • Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
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14 Citations
Highly Influential Citations
1
Background Citations
2
Methods Citations
1

14 Citations

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Citation Type

Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry
TLDR
This work quantified the MMA in cell-free amniotic fluid samples that had been dried on filter paper and transported at ambient temperatures, and compared the results with data obtained from the original amniotics, indicating that the filter paper method was reproducible and accurate enough to be applied to clinical analysis.
Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS.
Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry.
Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
TLDR
A biochemical approach can serve as a fast and convenient prenatal diagnostic method for pregnancies at an increased risk for PA, which could be used in conjunction with genetic testing for precise prenatal diagnosis of this disorder.
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
  • T. Kuhara
  • Biology
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
  • 2002
Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid
TLDR
Analytical and clinical evaluation of the method showed that GC-MS with electron-impact fragmentation can be an informative analytical approach for low-level organic acids in physiological fluids and shows a fair reliability for amniotic fluid analysis, which might warrant its use for prenatal diagnosis of organic acidurias.
Automated GC-MS analysis of free amino acids in biological fluids.
A Description of Reference Ranges for Organic Acids in Urine Samples from A Pediatric Population in Iran.
TLDR
The results provide a foundation on which to check results for patients with potentially abnormal organic acidurias, and identify major and minor urinary acidic metabolites in normal subjects, and their quantitative ranges in a pediatric population of Iran.
Development of an UPLC-MS/MS method for assaying the enzymatic activity of propionyl coenzyme-A carboxylase.
TLDR
The developed UPLC-MS/MS method is capable of rapidly quantifying P CC's enzymatic activity and demonstrated suitability for assaying PCC's activity in complex biological samples, which will be useful in validating recombinant expression of PCC, and potentially for routine quantification of mitochondrial Pcc's activity level in patient cells.
Systematic re-evaluation of the long-used standard protocol of urease-dependent metabolome sample preparation
TLDR
It is found that activities of Urease and endogenous urinary enzymes and metabolite contaminants from the urease preparations introduce artefacts into metabolite profiles, thus leading to misinterpretation.
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References

SHOWING 1-5 OF 5 REFERENCES
Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia.
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
TLDR
A new method for screening IEM using GC/MS, which enables accurate chemical diagnoses through urinary analyses with a simple practical procedure, and is quite comprehensive and different from conventional GC/ MS organic acidemia screening procedures, which are not well-suited to detect metabolic disorders except organic acidurias.
Pitfalls in the prenatal diagnosis of propionic acidemia
TLDR
Chosome variant analysis demonstrated that between passage two and four overgrowth of the female fetal cells by contaminating maternal cells led to the “false negative” results obtained by enzyme assay, demonstrating the value of analysis of abnormal metabolites in amniotic fluid.
Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and future
An attempt is made to summarize as completely as possible what is known about the prenatal diagnosis of amino– and organic acidurias by direct measurement of characteristic metabolites in amniotic…
Prenatal diagnosis of propionic acidemia: Amniocentesis at the 11th week of pregnancy