Article
Phenotyping GABA transaminase deficiency: a case description and literature review.
Journal of inherited metabolic disease - 1 Sept 2016
Louro Pedro, Ramos Lina, Robalo Conceição, Cancelinha Cândida, Dinis Alexandra, Veiga Ricardo, Pina Raquel, Rebelo Olinda, Pop Ana, Diogo Luísa, Salomons Gajja S, Garcia Paula
Abstract excerpt
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor...
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