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dc.contributor.authorLouro, P-
dc.contributor.authorRamos, L-
dc.contributor.authorRobalo, C-
dc.contributor.authorCancelinha, C-
dc.contributor.authorDinis, A-
dc.contributor.authorVeiga, R-
dc.contributor.authorPina, R-
dc.contributor.authorRebelo, O-
dc.contributor.authorPop, A-
dc.contributor.authorDiogo, L-
dc.contributor.authorSalomons, GS-
dc.contributor.authorGarcia, P-
dc.identifier.citationJ Inherit Metab Dis. 2016 Sep;39(5):743-7.pt_PT
dc.description.abstractGamma-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. He presented signs of premature pubarche, thermal instability, and water-electrolyte imbalance. Serum total testosterone was elevated (43.3 ng/dl; normal range <16), as well as serum growth hormone (7.7 ng/ml; normal range <1). Brain magnetic resonance imaging (MRI) showed decreased myelination and generalized brain atrophy, later confirmed by post-mortem examination. ABAT gene sequencing was performed post-mortem, identifying a homozygous variant c.888G > T (p.Gln296His),not previously described. In vitro analysis concluded that this variant is pathogenic. The clinical features of this patient are similar to those reported so far in GABA-T deficiency. However, distinct mutations may have a different effect on enzymatic activity, which potentially could lead to a variable clinical outcome. Clinical investigation aiming for a diagnosis should not end with the patient's death, as it may allow a more precise genetic counselling for the family.pt_PT
dc.subjectErros Inatos do Metabolismopt_PT
dc.subject4-Aminobutirato Transaminase/deficiênciapt_PT
dc.subject4-Aminobutirato Transaminase/genéticapt_PT
dc.titlePhenotyping GABA transaminase deficiency: a case description and literature reviewpt_PT
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