Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples

@article{Kuhara2004GasCS,
  title={Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples},
  author={Tomiko Kuhara and Morimasa Ohse and Yoshito Inoue and Toru Yorifuji and Nobuo Sakura and Hiroshi Mitsubuchi and Fumio Endo and J. Ishimatu},
  journal={Journal of Inherited Metabolic Disease},
  year={2004},
  volume={25},
  pages={98-106}
}
Propionic acidaemia (PCCD) or deficiency of propionyl-CoA carboxylase (PCC) is one of the most common organic acidaemias. Recent studies have suggested that this disease can cause somatic or cognitive deterioration even in patients without ketosis or metabolic acidosis, or in cases with unusually late onset. This suggests that for this disease a sensitive yet practical screening procedure'is required to achieve early treatment. We conducted a pilot study of gas chromatographic–mass… 
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References

SHOWING 1-10 OF 26 REFERENCES
Modifications in electrospray tandem mass spectrometry for a neonatal-screening pilot study in Japan.
Propionic acidaemia: clinical, biochemical and therapeutic aspects
Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were
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.
Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease.
Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
TLDR
A method for analysis of acylcarnitines in blood at physiological concentrations has been developed and could enable routine neonatal screening to be carried out in an efficient and cost-effective manner.
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.
TLDR
An efficient 96-well-microplate batch process for blood-spot sample preparation is introduced that can obtain high-quality profiles from 500-1000 samples per day per instrument and demonstrates its outstanding clinical sensitivity in flagging abnormal profiles and its high cumulative specificity.
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis
TLDR
Propionic acidaemia can present as a sudden and fatal neurological disease and not only as an organic aciduria with severe biochemical dis-turbances and progressive neurological deterioration.
Neurologic nonmetabolic presentation of propionic acidemia.
TLDR
Experience with 2 patients with propionic acidemia indicates that this disease may present first with prominent neurologic disease without the life-threatening episodes of ketoacidosis that usually serve as the alerting signals for a diagnosis of an organic acidemia.
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.
...
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