Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy

Abstract

Proton nuclear magnetic resonance spectroscopy has been used to monitor changes in urinary metabolites in a patient with propionic acidaemia over a period of 10 months and in a patient with methylmalonic aciduria over a period of 11 days. Results could be obtained within 5-10 min of sample receipt. In the spectra on the patient with propionic acidaemia not only could fluctuations in 3-hydroxypropionate and propionylglycine excretion be followed, but also variations in creatine, glycine and betaine, which were often present at millimolar concentrations. The patient with methylmalonic aciduria had an acute episode of severe ketoacidosis during which the glycine excretion fell but creatine excretion rose and then fell on recovery from the episode. The changes in the creatine excretion may reflect disorders in intracellular energy supply. Nuclear magnetic resonance is a powerful technique for monitoring metabolic perturbations in the organic acidurias in 'real-time', allowing the planning and evaluation of therapy.