title: Review: Normal and abnormal central nervous system GABA metabolism in childhood.
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.
authors.affiliation: Department of Paediatrics, University of Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: P
authors.initials: P
authors.lastname: Casaer
authors.forename: K D
authors.initials: KD
authors.lastname: Haegele
authors.forename: P J
authors.initials: PJ
authors.lastname: Schechter
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000134:cerebrospinal fluid / Q000201:enzymology / Q000235:genetics; D001921:Brain / Q000378:metabolism*; D002648:Child; D006801:Humans; D012016:Reference Values; D005680:gamma-Aminobutyric Acid / Q000134:cerebrospinal fluid / Q000378:metabolism* / Q000502:physiology
chemical_list: D005680:gamma-Aminobutyric Acid