Literature DB >> 30644311

GABA Transaminase Deficiency With Survival Into Adulthood.

Anaita U Hegde1, Purva K Karnavat1, R Vyas2, Melissa L DiBacco3, P Ellen Grant3, Phillip L Pearl3.   

Abstract

γ-Aminobutyric acid (GABA)-transaminase deficiency is an ultra-rare disorder of GABA metabolism that was described for decades as an early-onset epileptic encephalopathy plus movement disorder and hypersomnolence with mortality in early childhood. We report 2 affected siblings in adolescence and adulthood, both with profound developmental impairment, intractable epilepsy, movement disorder, and behavioral fluctuations. This considerably expands the phenotype and longevity of this inherited neurotransmitter disease.

Entities:  

Keywords:  ABAT gene; GABA metabolism; GABA-T deficiency; GABA-transaminase deficiency; India

Mesh：

Substances：

Year:  2019        PMID： 30644311      PMCID： PMC7292229          DOI： 10.1177/0883073818823359

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  9 in total

1.  Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.

Authors:  P L Pearl; K M Gibson; Z Quezado; I Dustin; J Taylor; S Trzcinski; J Schreiber; K Forester; P Reeves-Tyer; C Liew; S Shamim; P Herscovitch; R Carson; J Butman; C Jakobs; W Theodore
Journal:  Neurology       Date:  2009-08-11       Impact factor: 9.910

2.  Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene.

Authors:  Madhu Nagappa; Parayil Sankaran Bindu; Shwetha Chiplunkar; Periasamy Govindaraj; Gayathri Narayanappa; Ayyappan Krishnan; M M Srinivas Bharath; Aarthi Swaminathan; Jitender Saini; Hanumanthapura R Arvinda; Sanjib Sinha; Pavagada S Mathuranath; Arun B Taly
Journal:  Brain Dev       Date:  2016-09-03       Impact factor: 1.961

Review 3.  Phenotype of GABA-transaminase deficiency.

Authors:  Mary Kay Koenig; Ryan Hodgeman; James J Riviello; Wendy Chung; Jennifer Bain; Claudia A Chiriboga; Kazushi Ichikawa; Hitoshi Osaka; Megumi Tsuji; K Michael Gibson; Penelope E Bonnen; Phillip L Pearl
Journal:  Neurology       Date:  2017-04-14       Impact factor: 9.910

4.  Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.

Authors:  Mahsa Parviz; Kara Vogel; K Michael Gibson; Phillip L Pearl
Journal:  J Pediatr Epilepsy       Date:  2014-11-25

5.  Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.

Authors:  J Jaeken; P Casaer; P de Cock; L Corbeel; R Eeckels; E Eggermont; P J Schechter; J M Brucher
Journal:  Neuropediatrics       Date:  1984-08       Impact factor: 1.947

Review 6.  Inherited disorders of GABA metabolism.

Authors:  C Jakobs; J Jaeken; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

7.  The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

Authors:  Arnaud Besse; Ping Wu; Francesco Bruni; Taraka Donti; Brett H Graham; William J Craigen; Robert McFarland; Paolo Moretti; Seema Lalani; Kenneth L Scott; Robert W Taylor; Penelope E Bonnen
Journal:  Cell Metab       Date:  2015-03-03       Impact factor: 27.287

8.  Personalized medicine approach confirms a milder case of ABAT deficiency.

Authors:  A Besse; A K Petersen; J V Hunter; V Appadurai; S R Lalani; P E Bonnen
Journal:  Mol Brain       Date:  2016-12-01       Impact factor: 4.041

9.  A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

Authors:  Megumi Tsuji; Noriko Aida; Takayuki Obata; Moyoko Tomiyasu; Noritaka Furuya; Kenji Kurosawa; Abdellatif Errami; K Michael Gibson; Gajja S Salomons; Cornelis Jakobs; Hitoshi Osaka
Journal:  J Inherit Metab Dis       Date:  2010-01-06       Impact factor: 4.982
  9 in total
  2 in total

1.  Coupling of GABA Metabolism to Mitochondrial Glucose Phosphorylation.

Authors:  Joao Paulo Cavalcanti-de-Albuquerque; Eduardo de-Souza-Ferreira; Denise Pires de Carvalho; Antonio Galina
Journal:  Neurochem Res       Date:  2021-10-08       Impact factor: 3.996

Review 2.  Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.

Authors:  Mario Mastrangelo
Journal:  Metab Brain Dis       Date:  2020-10-23       Impact factor: 3.584
  2 in total

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