2 documents found, page 1 of 1
Phenotyping GABA transaminase deficiency: a case description and literature review
Louro, P; Ramos, L; Robalo, C; Cancelinha, C; Dinis, A; Veiga, R; Pina, R; Rebelo, O; Pop, A; Diogo, L; Salomons, GS; Garcia, PGamma-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 ret...
Guanidinoacetate methyltransferase deficiency identified in adults and a child ...
Araujo, HC; Smit, W; Verhoeven, NM; Salomons, GS; Silva, S; Vasconcelos, R; Tomas, H; de Almeida, IT; Jakobs, C; Duran, MOur study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast to t