Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry.

Abstract

The measurement of plasma or serum methylmalonic acid (MMA) is useful for monitoring therapy in patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, defects of vitamin B12 metabolism, and also for the determination of functional vitamin B12 deficiency. This method utilizes a stable-isotope labeled internal standard (trideuterated MMA), which is added to the standards, controls, and patient samples prior to extraction. MMA is derivatized by butylation and the amount quantified against a seven-point standard curve using specific selected ions from both the labeled and unlabeled MMA.

• Authors: Jie Chen, Michael J Bennett
• Journal: Methods in molecular biology (Clifton, N.J.) (Methods Mol Biol) Vol. 603 Pg. 365-70 ( 2010) ISSN: 1940-6029 [Electronic] United States
• PMID: 20077088 (Publication Type: Journal Article)

Chemical References

• Methylmalonic Acid

Topics

• Gas Chromatography-Mass Spectrometry (methods)
• Humans
• Methylmalonic Acid (blood)
• Reference Standards
• Reproducibility of Results
• Vitamin B 12 Deficiency (blood)