title: Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
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.
authors.affiliation: Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts, USA.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Parviz
authors.affiliation: Biological Pharmacology, Washington State University, Pullman, Washington, USA.
authors.forename: Kara
authors.initials: K
authors.lastname: Vogel
authors.affiliation: Biological Pharmacology, Washington State University, Pullman, Washington, USA.
authors.forename: K Michael
authors.initials: KM
authors.lastname: Gibson
authors.affiliation: Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts, USA.
authors.forename: Phillip L
authors.initials: PL
authors.lastname: Pearl
keywords: GABA-T deficiency; Neurometabolic diseases; SSADH deficiency; epileptic encephalopathy