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Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.

Genes - 2 Aug 2021

Rossi Luigia, Nardecchia Francesca, Pierigè Francesca, Ventura Rossella, Carducci Claudia, Leuzzi Vincenzo, Magnani Mauro, Cabib Simona, Pascucci Tiziana

Abstract excerpt

Guanidinoacetate methyltransferase deficiency (GAMT-D) is one of three cerebral creatine (Cr) deficiency syndromes due to pathogenic variants in the GAMT gene (19p13.3). GAMT-D is characterized by the accumulation of guanidinoacetic acid (GAA) and the depletion of Cr, which result in severe global developmental delay (and intellectual disability), movement disorder, and epilepsy. The GAMT knockout (KO) mouse...

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Identifiers

PMID: 34440375
DOI: 10.3390/genes12081201
PMCID: PMC8391262

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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