ReviewJournal of inherited metabolic disease
Inborn error of amino acid synthesis: human glutamine synthetase deficiency.
Review in Journal of inherited metabolic disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 86 citations in OpenAlex.
- Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods.Scientific reports · 2018Trial
- Revisiting gut microbiota-driven ammonia metabolism: from disease burden to physiological adaptation.Gut microbes · 2026Review
- Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies.Neurochemical research · 2026Review
- Effects of nutrition and gestational alcohol consumption on fetal growth and development.Nutrition reviews · 2022Review
- P2X7 Receptor Augments LPS-Induced Nitrosative Stress by Regulating Nrf2 and GSH Levels in the Mouse Hippocampus.Antioxidants (Basel, Switzerland) · 2022Article
- Glutamine-dependent signaling controls pluripotent stem cell fate.Developmental cell · 2022Article
- Beyond CaPflugers Archiv : European journal of physiology · 2021Article
- Astroglial Glutamine Synthetase and the Pathogenesis of Mesial Temporal Lobe Epilepsy.Frontiers in neurology · 2021Review
- Pathological Targets for Treating Temporal Lobe Epilepsy: Discoveries From Microscale to Macroscale.Frontiers in neurology · 2021Review
- Evaluation of [EJNMMI research · 2020Article
- Proteomics reveals that quinoa bioester promotes replenishing effects in epidermal tissue.Scientific reports · 2020Article
- Astrocytes and Glutamine Synthetase in Epileptogenesis.Journal of neuroscience research · 2019Review
- [Chronic phosphoproteomic in temporal lobe epilepsy mouse models induced by kainic acid].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2019Article
- Insufficient glutamine synthetase activity during synaptogenesis causes spatial memory impairment in adult mice.Scientific reports · 2019Article
- The glutamine synthetase of Trypanosoma cruzi is required for its resistance to ammonium accumulation and evasion of the parasitophorous vacuole during host-cell infection.PLoS neglected tropical diseases · 2018Article
- Cancer cell metabolism: the essential role of the nonessential amino acid, glutamine.The EMBO journal · 2017Review
- Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.Biology · 2016Review
- Molecular Mechanisms of Glutamine Synthetase Mutations that Lead to Clinically Relevant Pathologies.PLoS computational biology · 2016Article
- Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.American journal of human genetics · 2015Article
- Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.Journal of inherited metabolic disease · 2015Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glutamine synthetase (GS) is ubiquitously expressed in human tissues, being involved in ammonia detoxification and interorgan nitrogen flux. Inherited systemic deficiency of glutamine based on a defect of glutamine synthetase was recently described in two newborns with an early fatal course of disease. Glutamine was largely absent in their serum, urine and cerebrospinal fluid. Each of the patients had a homozygous mutation in the glutamine synthetase gene and enzymatic investigations confirmed that these mutations lead to a severely reduced glutamine synthetase activity. From the observation in the first patients with congenital glutamine synthetase deficiency, brain malformation can be expected as one of the leading signs. In addition, other organ systems are probably involved as observed in one of the index patients who suffered from severe enteropathy and necrolytic erythema of the skin. Deficiency of GS has to be added to the list of inherited metabolic disorders as a rare example of a defect in the biosynthesis of an amino acid.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.