Glutarylcarnitine lithium is the diagnostic metabolite for malonic aciduria and glutaric aciduria type I monitored in most tandem mass spectrometry newborn screening programmes.
Malonylcarnitine and Glutarylcarnitine are important diagnostic metabolites in the screening of dried blood spots by tandem mass spectrometry[1].
The urinary excretion of glutarylcarnitine is a specific biochemical marker of glutaric acidemia type I (GA-1). The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I[2].
References:
[1]. Johnson DW, et al. Stability of malonylcarnitine and Glutarylcarnitine in stored blood spots. J Inherit Metab Dis. 2004;27(6):789-90.
[2]. S Tortorelli, et al. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab. 2005 Feb;84(2):137-43.