Results 41 to 50 of about 10,947 (199)

A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous

Frontiers in Genetics, 2022
Background: The purpose of the study was to investigate the levels of amino acids and acylcarnitines in newborns of the Tibet Autonomous Region for the first time and to provide an experimental basis for the diagnosis of genetic metabolic diseases ...
Chunyan Zhang, Drun Dha, Yuxuan Cheng, Ya Ma, Yan Meng, Drun Tse, Dolma Ngawang, Pedrun Dekyi, Tao Jiang, Yang Shu, Jiayi Cui, Jing Li, Yaping Tian   +12 more
doaj   +1 more source

Mechanism of carnitine acylcarnitine translocase-catalyzed import of acylcarnitines into mitochondria.

Journal of Biological Chemistry, 1984
Mitochondrial imports of acylcarnitine and carnitine have been measured by new methods based on the monitoring of deacylation of acylcarnitines and the acetylation of carnitine in the matrix, subsequent to their entry. These methods have shown higher import rates than those calculated from the uptake of radioactive carnitines into mitochondria as ...
M S, Murthy, S V, Pande
openaire   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Acylcarnitines: Distinguishing acylcarnitine isomeric forms by HPLC/ESI/MS

The FASEB Journal, 2006
Isomeric acylcarnitines are indistinguishable by tandem mass spectrometry. This methodological deficiency can be overcome by including a chromatographic component in the analysis procedure. Isomeric acylcarnitines were synthesized and their pentafluorophenacyl esters chromatographed by HPLC and detected by ESI/MS using a quadrupole ion‐trap instrument.
Paul E. Minkler, Shuming Yang, Maria S.K. Stoll, Stephen T. Ingalls, Charles L. Hoppel   +4 more
openaire   +1 more source

Serum Acylcarnitines and Vitamin B12 Deficiency [PDF]

Clinical Chemistry, 2002
Measurements of acylcarnitines in plasma have several diagnostic applications, and various tandem mass spectrometry methods are more specific and accurate than earlier methods (1)(2)(3)(4). Libert et al. (5) reported that propionylcarnitine (PrCRN) and carnitine (CRN) esters of 2-methyl-branched fatty acids with chain lengths of four to nine carbons ...
Mark M, Kushnir, Bori, Shushan, William L, Roberts, Marzia, Pasquali   +3 more
openaire   +2 more sources

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +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

Effect of Toxicants on Fatty Acid Metabolism in HepG2 Cells

Frontiers in Pharmacology, 2018
Impairment of hepatic fatty acid metabolism can lead to liver steatosis and injury. Testing drugs for interference with hepatic fatty acid metabolism is therefore important.
David Grünig, David Grünig, Urs Duthaler, Urs Duthaler, Stephan Krähenbühl, Stephan Krähenbühl, Stephan Krähenbühl   +6 more
doaj   +1 more source

Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome

JPGN Reports, EarlyView.
Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Tierra L. Mosher, Kathryn S. Czepiel, Matthew B. Neu, Andrea Carolina Cortes Fernandez, L. Walden Browne, Annie D. Niehaus, Roberto Gugig   +6 more
wiley   +1 more source

Insomnia, Cognitive Impairment, or a Combination of Both, Alter Lipid Metabolism Due to Changes in Acylcarnitine Concentration in Older Persons

Metabolites
Background/Objectives: Insomnia has been widely associated with cognitive impairment (CI). However, the relationship between the two entities (insomnia and CI) is poorly understood.
Selma Karime Castillo-Vazquez, Berenice Palacios-González, Marcela Vela-Amieva, Isabel Ibarra-González, Ricardo Morales, Paola García-delaTorre, Sergio Sánchez-García, Carmen García-Peña, Ricardo Reyes-Chilpa, Raúl Hernán Medina-Campos, Jessica Hernández-Pineda, Juan Carlos Gomez-Verjan, Nadia Alejandra Rivero-Segura   +12 more
doaj   +1 more source