Clinical aspects of the disorders of GABA metabolism in children.
Pearl PL, Gibson KM.
Pearl PL, et al.
Curr Opin Neurol. 2004 Apr;17(2):107-13. doi: 10.1097/00019052-200404000-00005.
Curr Opin Neurol. 2004.
PMID: 15021235
Review.
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis. Pyridoxine dependent epilepsy is diagnosed clinically but potentially more common presentations, with l …
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH defi …