Methylmalonic acid quantification by stable isotope dilution gas chromatography-mass spectrometry from filter paper urine samples

Clin Chem. 1996 Jun;42(6 Pt 1):910-4.

Abstract

A specific method for quantification of methylmalonic acid (MMA) from urine samples dried onto filter paper is described. The method involves stable isotope dilution gas chromatography-mass spectrometry with [methyl-2H3]-MMA as the internal standard. MMA is stable in dry paper samples stored at room temperature for at least 2 weeks. The extraction efficiency of MMA from paper was 56-58%. The concentration of urinary MMA in dried filter paper specimens from 190 normal controls was 1.21 +/- 1.34 (mean +/- SD) mmol/mol of urinary creatinine. Age-related reference values are also reported. The concentrations, normalized to the urinary creatinine concentration, decrease with age. The applicability of this method to rapid screening for cobalamin (vitamin B12)-related disorders and methylmalonic aciduria is demonstrated.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Metabolism, Inborn Errors / urine
  • Child
  • Child, Preschool
  • Deuterium
  • Gas Chromatography-Mass Spectrometry / methods*
  • Gas Chromatography-Mass Spectrometry / statistics & numerical data
  • Humans
  • Infant
  • Methylmalonic Acid / urine*
  • Paper*
  • Reference Values
  • Vitamin B 12 Deficiency / urine

Substances

  • Methylmalonic Acid
  • Deuterium