1. Biochemical and behavioral assessment of GRIN2B(P553T) patient after l-serine dietary supplementation.
Biochemical and behavioral assessment of GRIN2B(P553T) patient after l-serine dietary supplementation. (A) Top: Analysis of amino acid plasma concentration of d-l-serine, d-l-valine, d-l-isoleucine, d-l-leucine, glycine, taurine, and cysteine. Plasma samples analyzed correspond to the patient before and after l-serine treatment (light red and dark red dots, respectively) and the mean of controls (black lines; whiskers representation of mean-min-max values). Bottom: Chromatographic profiles of d-serine and l-serine enantiomers in plasma samples from the control individual (gray trace), the patient before treatment (light red trace), and the patient with l-serine dietary supplementation (dark red trace). (B) Top: Overlapping chromatographic profiles of d-serine and l-serine enantiomers (left and right, respectively) in CSF from a control (gray trace) and from the patient with GRIN2B(P553T) mutation, after l-serine dietary supplementation (red trace). Bottom: Serine enantiomers concentration analysis in CSF of controls (gray dots; whiskers representation of mean-min-max values; gray traces in the chromatogram) and the patient with l-serine dietary supplement (red dots and traces). (C) Clinical manifestations of the patient harboring a de novo GRIN2B(P553T) mutation, before and after 17 months of l-serine dietary supplementation.
David Soto et al., Sci. Signal. 2019;12:eaaw0936
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