Parviz, Mahsa2016-11-072015Parviz, Mahsa, Kara Vogel, K. Gibson, and Phillip Pearl. 2015. “Disorders of GABA Metabolism: SSADH and GABA-Transaminase Deficiencies.” Journal of Pediatric Epilepsy 03 (04) (July 18): 217–227. doi:10.3233/pep-14097.2146-457Xhttp://nrs.harvard.edu/urn-3:HUL.InstRepos:29361684Clinical disorders known to affect inherited gamma-amino butyric acid (GABA) metabolism are autosomal recessively inherited succinic semialdehyde dehydrogenase and GABA-transaminase deficiency. The clinical presentation of succinic semialdehyde dehydrogenase deficiency includes intellectual disability, ataxia, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported. GABA-transaminase deficiency is associated with a severe neonatal-infantile epileptic encephalopathy.en-USNeurometabolic diseasesSSADH deficiencyGABA-T deficiencyepileptic encephalopathyJournal Article2016-01-16Mahsa Parviz, Kara Vogel, K. Michael Gibson, Philip L. Pearl2016-11-0710.3233/PEP-14097