l-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy

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Science Signaling  18 Jun 2019:
Vol. 12, Issue 586, eaaw0936
DOI: 10.1126/scisignal.aaw0936

Treating NMDA receptor deficiency with a dietary supplement

Patients with Rett-like syndrome show impaired neuronal, motor, cognitive, and social development. Soto et al. studied the etiology and treatment of the disorder in a 5-year-old patient who had a mutation in GRIN2B, the gene encoding the NMDA receptor subunit GluN2B. Expressing this mutant in cultured neurons impaired both electrophysiological activity and dendritic morphology, but these features were improved with the application of the known NMDA receptor agonist, d-serine. d-Serine administration has some toxicity in rodents, but its stereoisomer l-serine is a natural, nonessential amino acid found in various foods. Adding l-serine powder to the patient’s food or drink over the course of more than a year increased the amount of d-serine in the plasma and cerebrospinal fluid and markedly improved all neurodevelopment assessments, suggesting that this rather simple treatment might be extended to various patients with disorders associated with NMDA receptor deficiency.

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