Results 41 to 50 of about 4,697 (135)

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Changes in hepatic L-carnitine levels in people with metabolic dysfunction-associated steatotic liver disease (MASLD) assessed by magnetic resonance techniques

Scientific Reports
L-carnitine is critical for metabolism of some fatty acids therefore different carnitine species may play a role in metabolic dysfunction-associated steatotic liver disease (MASLD) pathogenesis.
Dragana Savic, Michael Pavlides, Mette Skalshøi Kjær, Sher May Ng, Katharine Thomas, Tim James, Gabrielle Allen, Claire Hart, Stefan Neubauer, Leanne Hodson, Ladislav Valkovič, Ferenc E. Mózes   +11 more
doaj   +1 more source

Obesity and lipid stress inhibit carnitine acetyltransferase activity[S]

Journal of Lipid Research, 2014
Carnitine acetyltransferase (CrAT) is a mitochondrial matrix enzyme that catalyzes the interconversion of acetyl-CoA and acetylcarnitine. Emerging evidence suggests that this enzyme functions as a positive regulator of total body glucose tolerance and ...
Sarah E. Seiler, Ola J. Martin, Robert C. Noland, Dorothy H. Slentz, Karen L. DeBalsi, Olga R. Ilkayeva, Jie An, Christopher B. Newgard, Timothy R. Koves, Deborah M. Muoio   +9 more
doaj   +1 more source

Pharmacometabolomics identifies candidate predictor metabolites of an L‐carnitine treatment mortality benefit in septic shock

Clinical and Translational Science, 2021
Sepsis‐induced metabolic dysfunction contributes to organ failure and death. L‐carnitine has shown promise for septic shock, but a recent phase II study of patients with vasopressor‐dependent septic shock demonstrated a non‐significant reduction in ...
Michael A. Puskarich, Theodore S. Jennaro, Christopher E. Gillies, Charles R. Evans, Alla Karnovsky, Cora E. McHugh, Thomas L. Flott, Alan E. Jones, Kathleen A. Stringer, for the RACE Investigators   +9 more
doaj   +1 more source

Inositol and Berberine Synergistically Reprogram Endocrine and Ovarian Metabolism in Polycystic Ovary Syndrome

Cell Proliferation, Volume 59, Issue 7, July 2026.
In a DHEA+HFD‐induced mouse model, Ins/BBR alleviated mitochondrial defects and broadly reprogrammed metabolic landscape in granulosa cells, in specific, restoring nucleotide pools and amino acid turnover, and preventing abnormal long‐chain fatty acid accumulation.
Juan Ge, Chenxiang Zhang, Yilong Zhao, Haiyang Zhao, Shuai Zhu, Tao Tang, Guorui Zhang, Qiang Wang, Hui Wang   +8 more
wiley   +1 more source

Serum Acetylcarnitine as a Diagnostic Marker in Depression Episodes

Biomedical and Biotechnology Research Journal
Background: Depression is a serious public health concern due to its prevalence and associated discomfort, dysfunction, morbidity, and economic impact. Depression is more prevalent in women than in males.
R. Sandeep Varma, B. G. Prashanth Kumar, C. S. Muralidhar Krishna   +2 more
doaj   +1 more source

N-acetyltaurine and Acetylcarnitine Production for the Mitochondrial Acetyl-CoA Regulation in Skeletal Muscles during Endurance Exercises

Metabolites, 2021
During endurance exercises, a large amount of mitochondrial acetyl-CoA is produced in skeletal muscles from lipids, and the excess acetyl-CoA suppresses the metabolic flux from glycolysis to the TCA cycle. This study evaluated the hypothesis that taurine
Teruo Miyazaki, Yuho Nakamura-Shinya, Kei Ebina, Shoichi Komine, Song-Gyu Ra, Keisuke Ishikura, Hajime Ohmori, Akira Honda   +7 more
doaj   +1 more source

Probiotics‐derived postbiotics improve host metabolic syndrome by activating the adipocyte thermogenic signaling pathway in high‐fat diet‐fed mice

iMetaOmics, Volume 3, Issue 2, June 2026.
This schematic illustrates how probiotics‐derived postbiotics (PLBK®1–5) combat high‐fat diet‐induced obesity. Postbiotics remodel gut microbiota, boosting beneficial metabolites. These metabolites activate adipocyte thermogenesis (Ucp1/AMPK pathway), resulting in reduced body weight, improved insulin sensitivity, and alleviated hepatic steatosis in ...
Ye Tian, Liujing Huang, Yifan Liu, Xudong Mai, Yanbo Cheng, Bingdong Liu, Yixin Chen, Liwei Xie   +7 more
wiley   +1 more source

Integrative host–microbiome modeling uncovers the implication of oral–gut translocation in advanced cirrhosis

iMeta, Volume 5, Issue 3, June 2026.
Liver cirrhosis is associated with profound disruption of host–microbiome metabolic interactions. Using paired oral and fecal metagenomics combined with genome‐scale metabolic modeling, we investigated how microbial translocation along the oral–gut axis influences microbial metabolism at different cirrhosis severities.
Yi Jin, Frederick Clasen, Fernando Garcia‐Guevara, Sania Arif, Robert Schierwagen, Gholamreza Bidkhori, Michael Praktiknjo, Maximilian J. Brol, Frank E. Uschner, Florence A. Castelli, Nicolas Pons, Benoit Quinquis, Nathalie Galleron, Kevin Da Silva, Christophe Junot, Debbie L. Shawcross, David L. Moyes, Rajiv Jalan, S. Dusko Ehrlich, Vishal C. Patel, Jonel Trebicka, Saeed Shoaie   +21 more
wiley   +1 more source

Randomized Clinical Trial for the Optimization of Dyslipidemia Management in Patients with End-Stage Renal Disease Undergoing In-Hospital Maintenance Hemodialysis Therapy

Pharmaceutics
Background/Objectives: End-stage renal disease (ESRD) patients on maintenance hemodialysis (MHD) frequently develop L-carnitine (LC) deficiency, leading to dyslipidemia and increased cardiovascular risk. While LC supplementation may improve dyslipidemia,
Sadia Rehman, Muhammad Farhan, Muhammad Raza Sarfraz, Asma Naveed, Fahad Usman, Anila Bibi, Raheel Ahmed, Hiya Huq, Ali Hasan, Jarin Anzoom, Pobitro Kumar   +10 more
doaj   +1 more source