Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.

ABSTRACT: Inherited disorders of gamma-aminobutyric acid (GABA) metabolism include succinic semialdehyde dehydrogenase (SSADH) and gamma-aminobutyric acid transaminase (GABA-T) deficiencies. The clinical features, pathophysiology, diagnosis, and management of both, and an updated list of mutations in the ALDH5A1 gene, which cause SSADH deficiency, are discussed. A database of 112 individuals (71 children and adolescents, and 41 adults) indicates that developmental delay and hypotonia are the most common symptoms arising from SSADH deficiency. Furthermore, epilepsy is present in two-thirds of SSADH-deficient individuals by adulthood. Research with murine genetic models and human participants, using [¹¹ C] flumazenil positron emission tomography (FMZ-PET) and transcranial magnetic stimulati

SUBMITTER: Pearl PL 

PROVIDER: S-EPMC4485983 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature