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ω-Amidase and Its Substrate α-Ketoglutaramate (the α-Keto Acid Analogue of Glutamine) as Biomarkers in Health and Disease.
Biochemistry (Mosc)
October 2024
LiT Biosciences, Spokane, WA, 99202-5029, USA. ARRAY(0x5d17383a0090).
A large literature exists on the biochemistry, chemistry, metabolism, and clinical importance of the α-keto acid analogues of many amino acids. However, although glutamine is the most abundant amino acid in human tissues, and transamination of glutamine to its α-keto acid analogue (α-ketoglutaramate; KGM) was described more than seventy years ago, little information is available on the biological importance of KGM. Herein, we summarize the metabolic importance of KGM as an intermediate in the glutamine transaminase - ω-amidase (GTωA) pathway for the conversion of glutamine to anaplerotic α-ketoglutarate.
View Article and Find Full Text PDFAmmonium chloride reduces excitatory synaptic transmission onto CA1 pyramidal neurons of mouse organotypic slice cultures.
Front Cell Neurosci
October 2024
Department of Neuroanatomy, Institute of Anatomy and Cell Biology, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Acute liver dysfunction commonly leads to rapid increases in ammonia concentrations in both the serum and the cerebrospinal fluid. These elevations primarily affect brain astrocytes, causing modifications in their structure and function. However, its impact on neurons is not yet fully understood.
View Article and Find Full Text PDFNon-ketotic hyperglycinaemia masquerading as a hypotonic-hyporesponsive episode following vaccination in an infant.
BMJ Case Rep
May 2024
Department of Pediatrics, All India Institute of Medical Sciences Patna, Patna, Bihar, India.
Non-ketotic hyperglycinaemia (NKH) is an inborn error of glycine metabolism with autosomal recessive inheritance. A female infant presented to our emergency department with intractable seizures, lethargy and hypotonia, 2 weeks after her routine vaccination. Detailed infective and metabolic workup revealed normal blood sugar, ketone, lactate ammonia, and a high level of glycine in serum and cerebrospinal fluid suggesting NKH.
View Article and Find Full Text PDFClustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Am J Hum Genet
April 2024
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand. Electronic address:
Article Synopsis
- Glutamine synthetase (GS), encoded by the GLUL gene, converts glutamate to glutamine and plays a crucial role in neurotransmitter production and ammonia detoxification in the brain.
- *Variations in the GLUL gene can lead to severe developmental delays and neurological disorders in infants due to improper regulation of GS levels.
- *Research indicates that certain genetic mutations can result in a stable but non-regulated form of GS, highlighting the need for careful control of glutamine metabolism during brain development.
Despite numerous studies in human patients and animal models for phenylketonuria (PKU; OMIM#261600), the pathophysiology of PKU and the underlying causes of brain dysfunction and cognitive problems in PKU patients are not well understood. In this study, lumbar cerebral spinal fluid (CSF) was obtained immediately after blood sampling from early-treated adult PKU patients who had fasted overnight. Metabolite and amino acid concentrations in the CSF of PKU patients were compared with those of non-PKU controls.
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