Publication
Phenotyping GABA transaminase deficiency: a case description and literature review
| dc.contributor.author | Louro, P | |
| dc.contributor.author | Ramos, L | |
| dc.contributor.author | Robalo, C | |
| dc.contributor.author | Cancelinha, C | |
| dc.contributor.author | Dinis, A | |
| dc.contributor.author | Veiga, R | |
| dc.contributor.author | Pina, R | |
| dc.contributor.author | Rebelo, O | |
| dc.contributor.author | Pop, A | |
| dc.contributor.author | Diogo, L | |
| dc.contributor.author | Salomons, GS | |
| dc.contributor.author | Garcia, P | |
| dc.date.accessioned | 2017-07-17T14:06:30Z | |
| dc.date.available | 2017-07-17T14:06:30Z | |
| dc.date.issued | 2016-09 | |
| dc.description.abstract | 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. 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.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | J Inherit Metab Dis. 2016 Sep;39(5):743-7. | pt_PT |
| dc.identifier.doi | 10.1007/s10545-016-9951-z | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.4/2050 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Erros Inatos do Metabolismo | pt_PT |
| dc.subject | 4-Aminobutirato Transaminase/deficiência | pt_PT |
| dc.subject | 4-Aminobutirato Transaminase/genética | pt_PT |
| dc.title | Phenotyping GABA transaminase deficiency: a case description and literature review | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 747 | pt_PT |
| oaire.citation.issue | 5 | pt_PT |
| oaire.citation.startPage | 743-7 | pt_PT |
| oaire.citation.volume | 39 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |