J-Editing Proton MR Spectroscopy for Brain Signal Separation in Methylmalonic Acidemia: A Pediatric Case-Control Study

Background Methylmalonic acid (MMA) accumulates due to mitochondrial dysfunction or enzymatic deficiencies. Methylmalonic acidemia causes central nervous system damage. In vivo detection of MMA using conventional proton (¹H) MR spectroscopy is hindered by overlap with lactate and lipids at 1.33 ppm. Purpose To evaluate the feasibility of an optimized J-editing ¹H MR spectroscopy protocol to selectively detect MMA and lactate signals in both phantoms and individuals with met