Gamma-aminobutyric acid transaminase deficiency

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Synonyms: GABA transaminase deficiency

A rare disorder of gamma-aminobutyric acid (GABA) metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures hypotonia hyperreflexia and developmental delay) and growth acceleration.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Gamma-aminobutyric acid transaminase deficiency?

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Advocacy Organizations

GABA-A Alliance

The mission of GABA-A Receptor Alliance is to improve the lives of individuals affected by GABA-A genetic disorders through advocacy, connecting families and building support networks, and coordinating with scientific research. We aim to unite the various GABA-A receptor disorders across the globe to advance this mission.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.