Gamma-aminobutyric acid transaminase deficiency
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 April 2024
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Gamma-aminobutyric acid transaminase deficiency?
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Clinical Trials
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