Monitoring Methylmalonic Aciduria by NMR Urinomics

Molecules. 2020 Nov 14;25(22):5312. doi: 10.3390/molecules25225312.

Abstract

The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time; things involved were diet, medication and occasional episodes of failing to comply with prescribed diets. An extended dataset of targeted metabolites is presented, and correlations with the type of MMA are underlined. A survey of previous NMR studies on MMA is also presented.

Keywords: NMR spectroscopy; metabolomics; methylmalonic acid; methylmalonic aciduria; urine.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / urine*
  • Child
  • Child, Preschool
  • Creatinine / urine
  • Female
  • Glycine / urine
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Spectroscopy*
  • Male
  • Metabolomics*
  • Time Factors

Substances

  • Creatinine
  • Glycine

Supplementary concepts

  • Methylmalonic acidemia