case_images: PMC9909053_01
case_images: PMC9909053_02
case_images: 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).
case_images: 10.1177_23247096231154438-fig1.jpg
case_images: PMC9909053_02_10.1177_23247096231154438-fig1.jpg
case_images: fig1-23247096231154438
case_images: Brain MRS showed diffusely diminished creatine peaks across the sampled regions, further supporting the diagnosis of CRTR deficiency (Figure 1).