scholarly journals Impaired novelty acquisition and synaptic plasticity in congenital hyperammonemia caused by hepatic glutamine synthetase deficiency

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Aisa N. Chepkova ◽  
Olga A. Sergeeva ◽  
Boris Görg ◽  
Helmut L. Haas ◽  
Nikolaj Klöcker ◽  
...  
Keyword(s):  
Synaptic Plasticity ◽  
Glutamine Synthetase ◽  
Synthetase Deficiency

Small loci of astroglial glutamine synthetase deficiency in the postnatal brain cause epileptic seizures and impaired functional connectivity

Epilepsia ◽  
2021 ◽  
Author(s):  
Maxwell G. Farina ◽  
Mani Ratnesh S. Sandhu ◽  
Maxime Parent ◽  
Basavaraju G. Sanganahalli ◽  
Matthew Derbin ◽  
...  
Keyword(s):  
Functional Connectivity ◽  
Glutamine Synthetase ◽  
Epileptic Seizures ◽  
Postnatal Brain ◽  
Synthetase Deficiency

Inborn error of amino acid synthesis: Human glutamine synthetase deficiency

2006 ◽  
Vol 29 (2-3) ◽  
pp. 352-358 ◽  
Author(s):  
Johannes Häberle ◽  
Boris Görg ◽  
Annick Toutain ◽  
Frank Rutsch ◽  
Jean-François Benoist ◽  
...  
Keyword(s):  
Amino Acid ◽  
Glutamine Synthetase ◽  
Inborn Error ◽  
Acid Synthesis ◽  
Amino Acid Synthesis ◽  
Synthetase Deficiency

Glutamine synthetase deficiency

2020 ◽  
pp. 259-262
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Glutamine Synthetase ◽  
Synthetase Deficiency

scholarly journals MARS treatment for a patient presenting with acquired hepatic glutamine synthetase deficiency after orthotopic liver transplantation

2005 ◽  
Vol 11 (3) ◽  
pp. 353-355 ◽  
Author(s):  
Alexander Chiu ◽  
Sidney Tam ◽  
Wing Yan Au ◽  
See Ching Chan ◽  
Chi Leung Liu ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Glutamine Synthetase ◽  
Orthotopic Liver Transplantation ◽  
Synthetase Deficiency

A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency

2018 ◽  
Vol 50 (01) ◽  
pp. 051-053 ◽  
Author(s):  
Serdar Ceylaner ◽  
Rıdvan Akın ◽  
Özlem Ünal
Keyword(s):  
Glutamine Synthetase ◽  
Clinical Findings ◽  
Resonance Imaging ◽  
Glutamine Concentration ◽  
Careful Evaluation ◽  
Synthetase Deficiency ◽  
Whole Exome ◽  
Magnetic Resonance Imaging Mri ◽  
Nicotinamide Treatment

AbstractMutations in the human GLUL gene, which encodes the enzyme glutamine synthetase (GS), may cause congenital glutamine synthetase deficiency. The disease was first described in 2005 and only three patients have been reported to date. We report a fourth patient suffering from congenital GS deficiency who was found to have some distinctive clinical findings. The patient was a 30-month-old girl who was referred to us due to developmental delay and seizures which began at 5 months of age. She was seizure free for 5 months with valproic acid and vigabatrin. At presentation, she was found to have microcephaly and hypotonia. Her plasma glutamine concentration was near normal and she had mild hyperammonemia. Cranial magnetic resonance imaging (MRI) showed mild changes. Whole exome sequencing (WES) revealed a homozygous c.121C > T (p.R41C) (p.Arg41Cys) pathogenic variant of the GLUL gene. The diagnosis of this patient underlines the importance of careful evaluation of patients with borderline low glutamine levels. Treatment was begun with L-glutamine and nicotinamide and biochemical improvements have been observed at 6 months of follow-up. The outcome of this patient may provide important data about the effectiveness of glutamine and nicotinamide treatment in patients with congenital GS deficiency.

Glutamine synthetase deficiency in murine astrocytes results in neonatal death

Glia ◽  
2010 ◽  
pp. NA-NA ◽  
Author(s):  
Youji He ◽  
Theodorus B. M. Hakvoort ◽  
Jacqueline L. M. Vermeulen ◽  
Wilhelmina T. Labruyère ◽  
D. Rudi De Waart ◽  
...  
Keyword(s):  
Glutamine Synthetase ◽  
Neonatal Death ◽  
Synthetase Deficiency

Glutamine synthetase deficiency in the human

2007 ◽  
pp. 336-348 ◽  
Author(s):  
J. Häberle ◽  
B. Görg ◽  
A. Toutain ◽  
F. Schliess ◽  
D. Häussinger
Keyword(s):  
Glutamine Synthetase ◽  
Synthetase Deficiency
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