Presence of Propionylglycine and Methylcitrate
The detection of these specific organic acids in the urine, which are normally absent, confirming the metabolic block in propionate breakdown.
Description
A urine sample is analyzed using gas chromatography-mass spectrometry (GC-MS). This identifies specific metabolic byproducts that spill over into the urine when the propionyl-CoA carboxylase enzyme is defective.