Evidence-Based Treatment of Guanidinoacetate Methyltransferase (GAMT) Deficiency

Abstract: Background: Guanidinoacetate methyltransferase (GAMT) deficiency causes cerebral creatine deficiency. Patients can have autistic behavior, seizures, intellectual disability, and severe speech delay. The goal of therapy is to increase creatine while reducing potentially neurotoxic guanidinoacetate concentrations. Here we evaluate how different therapies affect plasma guanidinoacetate levels in patients with GAMT deficiency. Methods: Retrospective analysis of data from five new patients with GAMT deficiency (four with delays and seizures, one diagnosed at birth).

Link to article: https://doi.org/10.1016/j.ymgme.2013.08.020

PubMed:  https://pubmed.ncbi.nlm.nih.gov/24071436/

Authors: Krista S.Viaua, Sharon L. Ernsta, Marzia Pasqualiab, Lorenzo D.Bottoa, GaryHedlund, Nicola Longo

Key Terms: GAMT, Clinical Study, Supplements, MRS, Pediatric Patient