Pedro Louro, Lina Ramos, Conceição Robalo, Cândida Cancelinha, Alexandra Dinis, Ricardo Veiga, Raquel Pina, Olinda Rebelo, Ana Pop, Luísa Diogo, Gajja S Salomons, Paula Garcia
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 retardation, hypotonia, lower-limb hyporeflexia, central hypoventilation, and rapid increase in weight and, to a lesser rate, length and head circumference...
September 2016: Journal of Inherited Metabolic Disease