This website provides information on patients with mutations in the Glutamate Pyruvate Transaminase 2 (GPT2) gene (also known as Alanine Aminotransferase 2 (ALAT2) and Alanine Transaminase 2 (ALT2)), including clinical data, molecular data, management options and research projects.

The syndrome caused by mutations in the GPT2 gene is a multisystem disorder characterized by: postnatal microcephaly, developmental delay, intellectual disability, nonverbal or limited language abilities, hypotonia during infancy, small stature, oral-motor dysfunction, hyperreflexia, hypertonia, joint contractures, regression in motor function (e.g., walking ability), spastic diplegia/paraplegia and seizures. Not all individuals with a mutation in the GPT2 gene have these features.

This website was created to share and collect information about clinical phenotypes, management options and research projects in an effort to gather more knowledge and provide better treatment of patients with mutations in the GPT2 gene.

Eric M. Morrow, MD, PhD, Emma Pendleton Bradley Hospital and Brown University, Providence, RI USA, eric_morrow@brown.edu

Brian C. Kavanaugh, PsyD, Emma Pendleton Bradley Hospital and Brown University, Providence, RI USA, brian_kavanaugh@brown.edu