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 ...
Such metabolites evolutions are not similar to those observed in pop2-1 mutant (figure 6) indicating that the mutant did not experiment K+ deficiency under NaCl treatment. GABA-T links N and C metabolisms in roots upon NaCl treatment Recently, a significant effort has been done to elucidate ...
Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiencyThe proband (patient 1), a 25-year-old woman, was the product of normal pregnancy and delivery. Her parents were first cousins from Lebanon. She ... H Morales-Briceño,Chang, Florence C.F.,C Wong,.....
GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies. This case was diagnosed post﹎ortem, but increased vigilance to this will allow for earlier diagnoses in other infants and families. This is a case study which involved diagnosis ...
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable...doi:10.1007/8904_2018_95Kazushi IchikawaMegumi Tsuji
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.doi:10.3389/FNINS.2019.00394Adam D. KennedyKirk L. PappanTaraka DontiMauricio R. DelgadoMarwan Shinawi...
We hypothesize that HBO 2 -induced deficiency of GABAergic neurotransmission due to suppression of GABA synthesis, can be overcome by blocking GABA clearance from the synaptic cleft and slowing down its enzymatic degradation. The present study aimed to explore the development of seizures in rats at...
Effects of iron deficiency on iron distribution and gamma-aminobutyric acid (GABA) metabolism in young rat brain tissues. Effects of iron deficiency on the distribution of iron and glutamate decarboxylase (GAD), gamma-aminobutyric acid transaminase (GABA-T) activities and GABA... D Li - 《Hokkaid...
Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J. Inherit. Metab. Dis. 1999; 22 (4):414–427. [ PubMed ]Lance H.Rodan, K. MichaelGibson, Phillip L.Pearl. (2015) Clinical Use ...