Title: Review: Normal and abnormal central nervous system GABA metabolism in childhood
Authors: Jaeken, Jacques ×
Casaer, Paul
Haegele, K D
Schechter, P J #
Issue Date: Jan-1990
Series Title: Journal of Inherited Metabolic Disease vol:13 issue:6 pages:793-801
Abstract: The metabolism and function of central nervous system GABA is briefly reviewed. Hereditary disorders of the GABA metabolism presenting in childhood are discussed with particular emphasis on the recently identified succinic semialdehyde dehydrogenase deficiency and GABA-transaminase deficiency, and on diseases associated with low CSF GABA which await further unravelling. Low CSF GABA concentrations are not always associated with convulsions. A separate section is devoted to the CSF as a tool in the diagnosis of these disorders. Finally, we present a few diagnostic and therapeutic guidelines.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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