Affiliations: Harvard Medical School and Boston Children's Hospital, Boston, MA, USA | Biological Pharmacology, Washington State University, Pullman, Washington, USA
Note:  Corresponding author: Dr. Phillip L. Pearl, Department of Neurology, Harvard Medical School and Boston Children's Hospital Boston, MA, USA. Tel.: +1 617 355 2413; Fax: +1 617 730 0463; E-mail: [email protected]
Abstract: Clinical 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.