Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.

J Pediatr Epilepsy. 2014 Nov 25;3(4):217-227. doi:10.3233/PEP-14097

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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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Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.

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