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Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies
Mahsa Parviz1, Kara Vogel2, K Michael Gibson2
1Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts, USA.
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.
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