Premium
Review: Normal and abnormal central nervous system GABA metabolism in childhood
Author(s) -
Jaeken J.,
Casaer P.,
Haegele K. D.,
Schechter P. J.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800202
Subject(s) - gaba transaminase , central nervous system , metabolism , transaminase , medicine , nervous system , endocrinology , neuroscience , physiology , biology , enzyme , biochemistry , glutamate decarboxylase
Summary 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.