PMC9909053_01
PMC9909053_02
Magnetic resonance spectroscopy (MRS) of white matter in an individual with creatine transporter (CRTR) deficiency prior to starting creatine supplementation. Creatine peak at 3.0 ppm is severely reduced from normal (typically larger than choline peak at 3.2 ppm in unaffected individuals).
10.1177_23247096231154438-fig1.jpg
PMC9909053_02_10.1177_23247096231154438-fig1.jpg
fig1-23247096231154438
Brain MRS showed diffusely diminished creatine peaks across the sampled regions, further supporting the diagnosis of CRTR deficiency (Figure 1).