Results 31 to 40 of about 3,031 (152)

Ketotic Episodes in Glutaryl-CoA Dehydrogenase Deficiency (Glutaric Aciduria) [PDF]

Pediatric Research, 1979
Summary: A 7-yr-old boy with glutaryl-CoA dehydrogenase deficiency (glutaric aciduria), presenting periodic episodes of lethargy and ketosis, was studied during two such episodes. The urinary excretions of glutaric and 3-OH-glutaric acids were 3100–7900 and 460–660 μg/mg creatinine, respectively, during these episodes.
N, Gregersen, N J, Brandt
openaire   +2 more sources

A Case of Glutaric Aciduria Type I: An Unusual Cause of Macrocephaly and Developmental Delay [PDF]

Journal of Clinical and Diagnostic Research
Glutaric Aciduria Type I (GA-I) is a rare autosomal recessive neurometabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase, leading to accumulation of glutaric acid and 3-hydroxyglutaric acid with subsequent neurotoxicity. A seven-month-old
G Premalakshmi, Shanthi Ramesh, Jagdeep Ramesh   +2 more
doaj   +1 more source

A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1

Case Reports in Pediatrics, 2014
Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid.
S. Pusti, N. Das, K. Nayek, S. Biswas
doaj   +1 more source

A cofactor‐promiscuous HMGR from the Lyme disease pathogen illuminates diversity in bacterial isoprenoid biosynthesis

Protein Science, Volume 35, Issue 9, September 2026.
Abstract The Lyme disease pathogen Borrelia burgdorferi contains a highly reduced genome lacking many primary metabolic pathways. However, B. burgdorferi retains the mevalonate pathway that synthesizes isopentenyl pyrophosphate (IPP), the precursor to the peptidoglycan carrier lipid.
Isaac A. Paddy, Joshua McCausland, Madelyn Frazier, Poulami Chatterjee, Mekedlawit Setegne, Oliv Eidam, Christine Jacobs‐Wagner, Laura M. K. Dassama   +7 more
wiley   +1 more source

SIRT Family: Biological Functions and Therapeutic Targets

MedComm, Volume 7, Issue 8, August 2026.
SIRT1–SIRT7 networks from transgenic mice to human‑relevant therapeutic targets. SIRT1–SIRT7 form an isoform‑, organ‑, and disease‑specific regulatory network. Transgenic Sirt1–7 mouse models define central regulatory SIRTs (SIRT1, SIRT3, SIRT6), context‑dependent modifiers (SIRT2, SIRT4, SIRT5, SIRT7), and their key mechanisms and target organs. These
Jia‐Yi Wang, Feng‐Li Jiang, Fang‐Yuan Zhang, Dong‐Hui Huang, Xiao‐Ying Li, Song Gao, Hua You, Qi‐Jun Wu, Huan‐Huan Chen, Ting‐Ting Gong   +9 more
wiley   +1 more source

Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model. [PDF]

PLoS ONE, 2014
Acute neurological crises involving striatal degeneration induced by a deficiency of glutaryl-CoA dehydrogenase (GCDH) and the accumulation of glutaric (GA) and 3-hydroxyglutaric acid (3-OHGA) are considered to be the most striking features of glutaric ...
Xi Fu, Hongjie Gao, Fengyan Tian, Jinzhi Gao, Liping Lou, Yan Liang, Qin Ning, Xiaoping Luo   +7 more
doaj   +1 more source

Putative Mechanisms for Initial Reaction of Anaerobic Benzene Degradation Presumably Involving a Flavoprotein

Environmental Microbiology, Volume 28, Issue 8, August 2026.
Anaerobic biodegradation of benzene by sulphate‐reducing strain BzS1 was studied by combining genomics, differential proteomics and targeted metabolite analyses. Strain BzS1 has an exceptionally streamlined metabolism. A highly abundant heterotrimeric flavoprotein may add benzene to either enolpyruvate or glutaconyl‐CoA followed by channelling into the
Florin Musat, Lars Wöhlbrand, Rene Jarling, Michael Kube, Niculina Musat, Patrick Becker, Stefan Bruns, Richard Reinhardt, Rudolf Amann, Friedrich Widdel, Heinz Wilkes, Ralf Rabus   +11 more
wiley   +1 more source

Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH

Fundamental Research, 2022
Glutaric aciduria type I (GA-I) is an autosomal recessive genetic disorder caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Patients who do not receive proper treatment may die from acute encephalopathic crisis.
Lu Guo, Zhikun Li, Yuhuan Li, Bin Qu, Guanyi Jiao, Chen Liang, Zongbao Lu, Xin-Ge Wang, Cheng Huang, Hongwei Du, Jianmin Liang, Qi Zhou, Wei Li   +12 more
doaj   +1 more source

Dual pharmacological targeting of coactivator‐associated arginine methyltransferase 1 (CARM1) and salt inducible kinase (SIK) drives ketogenesis in both hepatocytes and mice

British Journal of Pharmacology, Volume 183, Issue 15, Page 4399-4415, August 2026.
Abstract Background and Purpose Ketone bodies are liver‐derived circulating energy metabolites that positively impact most hallmarks of ageing. Ketone bodies increase during calorie restriction and fasting, two of the more widely perceived methods to increase health span.
Tábata Bergonci, Troels Kjær Rosenbæk, Samuel J. Windross, Ulrik B. Keiding, Estéfano Pinilla, Katrine P. Stuckert, Jakob Hansen, Camilla B. Nielsen, Jemila Peter Gomes, Lucy R. Davies, Johan Palmfeldt, Volker Loeschcke, Charlotte U. Andersen, Ulf Simonsen, Thomas B. Poulsen, Mogens Johannsen   +15 more
wiley   +1 more source

Glutaric Acidemia Type-1: A Metabolic Challenge

Pakistan Armed Forces Medical Journal
Glutaric Acidemia Type-1 (GA-1) is characterized by glutaryl-CoA dehydrogenase (GCDH) impairment. This enzyme deficit causes harmful metabolites, particularly glutaric acid, to accumulate in affected persons' tissues and fluids.
Muhammad Usman Munir, Monaza Batool, Muhammad Qaiser Alam Khan, Nisar Ahmed   +3 more
doaj   +1 more source