Results 71 to 80 of about 10,947 (199)

Stearoyl-CoA desaturase 1 deficiency drives saturated lipid accumulation and increases liver and plasma acylcarnitines

Journal of Lipid Research
Stearoyl-CoA desaturase-1 (SCD1) is a critical regulator of lipogenesis that catalyzes the synthesis of MUFAs, mainly oleate (18:1n-9) and palmitoleate (16:1n-7) from saturated fatty acids, stearoyl-CoA (18:0) and palmitoyl-CoA (16:0), respectively ...
Mugagga Kalyesubula, Helaina Von Bank, Jessica W. Davidson, Maggie S. Burhans, Madelaine M. Becker, Ahmed Aljohani, Judith Simcox, James M. Ntambi   +7 more
doaj   +1 more source

Acylcarnitines activate proinflammatory signaling pathways

American Journal of Physiology-Endocrinology and Metabolism, 2014
Incomplete β-oxidation of fatty acids in mitochondria is a feature of insulin resistance and type 2 diabetes mellitus (T2DM). Previous studies revealed that plasma concentrations of medium- and long-chain acylcarnitines (by-products of incomplete β-oxidation) are elevated in T2DM and insulin resistance.
Jennifer M, Rutkowsky, Trina A, Knotts, Kikumi D, Ono-Moore, Colin S, McCoin, Shurong, Huang, Dina, Schneider, Shamsher, Singh, Sean H, Adams, Daniel H, Hwang   +8 more
openaire   +3 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2128-2135, September 2026.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Acylcarnitines [PDF]

Diabetes, 2012
Marieke G. Schooneman, Frédéric M. Vaz, Sander M. Houten, Maarten R. Soeters   +3 more
openaire   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

A Case of Increased C5-OH Acylcarnitine [PDF]

Clinical Chemistry, 2016
A 12-day-old male infant was brought to metabolism clinic to follow up an abnormal newborn screening result. The screening laboratory reported a 3-hydroxyisovalerylcarnitine (C5-OH)2 concentration of 170 μmol/L (reference cutoff value,
openaire   +2 more sources

Mechanisms and Predisposing Conditions for Statin‐Induced New‐Onset Type 2 Diabetes Mellitus: A Paradox Relative to Their Pleiotropic Metabolic Effects

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
The primary function of statins is to inhibit cholesterol synthesis, which contributes to their antidiabetic effects. However, the majority of the diabetic effects of statins are due to inhibition of isoprenoid synthesis. Atorvastatin, simvastatin and rosuvastatin possess the most pronounced diabetogenic properties. In contrast, lovastatin, fluvastatin,
Ali Nosrati Andevari, Mohsen Koolivand
wiley   +1 more source

Conjugated Linoleic Acid‐Enriched Fermented Dairy Modulates Microbiota and Metabolites to Alleviate MASLD: Insights From Multi‐Omics and Causal Mediation Analysis

Food Frontiers, Volume 7, Issue 5, September 2026.
In a 120‐day randomized trial, CLA‐enriched fermented dairy remodeled the gut microbiota and rewired host metabolic pathways in patients with MASLD. These changes were accompanied by reductions in ALT, total cholesterol, creatinine, and hs‐CRP, supporting a microbiota‐mediated dietary strategy for metabolic and liver health.
Fei Mi, Yanjiao Wang, Jia Xiong, Yiyuan Ma, Hongmei Pan, Jianzhong Yin, Yunmei Chai, Yao Wang, Xin Xu, Ai Zhang, Qingwen Ma, Hui Wang, Dongbai Liu, Shaoxiong Wu   +13 more
wiley   +1 more source

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Coenzyme A (CoA) biosynthesis is a conserved, dynamically regulated pathway essential for mitochondrial energy production, fatty acid oxidation, lipid biosynthesis and protein acylation. Biallelic variants in PANK2, PPCS, PPCDC, and COASY cause rare inborn errors of CoA biosynthesis, associated with markedly different clinical phenotypes ...
Ivano Di Meo, Yair Anikster, Valeria Tiranti, Arcangela Iuso   +3 more
wiley   +1 more source

Medium Chain Acyl‐CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) classically presents with hypoketotic hypoglycaemia; however, this presentation is now rare following the introduction of newborn screening. While children with MCADD may produce some ketones, severe ketoacidosis has not been previously described.
Nazreen Kamarus Jaman, Isaac Bernhardt, Sophie Ward, Freya Hassall, James Nurse, Hugh Lemonde, R. Neil Dalton, Michael Champion   +7 more
wiley   +1 more source