This website provides information on patients with mutations in the ABAT gene, including clinical data, molecular data, management and research options.
GABA-Transaminase (GABA-T) deficiency, caused by mutations in the ABAT gene, is a multisystem disorder characterized by developmental delay, weak muscle tone (hypotonia), uncontrolled limb movements (choreoathetosis), recurrent seizures (epilepsy), exaggerated reflexes (hyperreflexia), and excessive sleepiness (hypersomnolence). Affected babies may grow faster in length than usual (accelerated linear growth), even though they have feeding problems and may not gain weight as expected (failure to thrive). Not all individuals with a mutation in the ABAT gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ABAT gene.
Phillip Pearl, MD, Boston Children’s Hospital, Boston, Massachusetts, firstname.lastname@example.org
Michael Gibson, PhD, Washington State University, Spokane, Washington, email@example.com
Melissa DiBacco, MD, Postdoctoral fellow, Boston Children’s Hospital, Boston, Massachusetts, firstname.lastname@example.org