Diagnosis of methylmalonic aciduria (MMA) by neonatal screening using tandem mass spectrometry (MS/MS).

Philippe Goyens, H Van Thi, N. Herremans, Linda De Meirleir, E. Gerlo, C. De Laet, P. Bourdoux

Research output: Chapter in Book/Report/Conference proceedingConference paper


Organic acidurias (OA) can be detected in the neonatal period by MS/MS. Retrospective analysis of the acylcarnitine (AC) profile of a newborn with complete methylmalonyl CoA mutase deficiency (mut°) was initially considered normal. We therefore analyzed the neonatal AC profiles of 3 children with proven MMA, to determine the diagnostic criteria for this treatable condition : mut°; a defect of adenosylcobalamin synthesis (AdoCbl), Vit. B12 unresponsive; a Vit. B12 responsive form of MMA.
Normal values for propionyl- (C3) and methylmalonyl-carnitine (C4DC) were derived from neonatal screening. The cut-off for C3/C2 (acetylcarnitine) ratio is taken from Rashed.

Reference value P1/mut° P2/ Ado Cbl P3/B12 responsive
C3 0.43-3.98 mmol/L 0.73 3.49 14.8
C4DC 0.0-0.32 mmol/L 0.03 0.16 0.32
Unexpectedly, C3 was suggestive of OA in the benign form of MMA, and only C3/C2 in severe forms. Conclusion : screening of MMA by MS/MS requires low cut-off values for C3 and C4DC. Our data suggest that the C3/C2 ratio has the highest sensitivity for detecting MMA. This criterion should be combined with critical analysis of the AC profile in order to maintain the recall rate within acceptable limits.
Original languageEnglish
Title of host publicationJ Inherit Metab Dis
Number of pages1
Publication statusPublished - 2001
EventUnknown -
Duration: 1 Jan 2001 → …

Publication series



Period1/01/01 → …


  • methylmalonic aciduria
  • MMA
  • MS/MS
  • tandem mass spectrometry


Dive into the research topics of 'Diagnosis of methylmalonic aciduria (MMA) by neonatal screening using tandem mass spectrometry (MS/MS).'. Together they form a unique fingerprint.

Cite this