Keywords: Neuro, Metabolism, Methylmalonic Acid(MMA),MRS
Motivation: Methylmalonic acidemia is an extremely harmful organic acidemia causing multi-system damage mainly in the central nervous system.
Goal(s): To selectively probe the 1H MR signals of methylmalonic acid and lactate (Lac) in vivo in the brain of methylmalonic acidemia (MMA) patients.
Approach: The optimal J-editing 1H MRS approach was used to probe the MMA and Lac signals in vivo.
Results: The methylmalonic acid and lactate 1H MR signals were selectively probed in a phantom and 8 MMA patients, confirming their correlation with urine and blood concentration levels.
Impact: We successfully detected methylmalonic acid and Lac signals in MMA patients, providing crucial support for exploring MMA metabolic pathways in vivo.
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