Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

SJG Knottnerus, JC Bleeker, RCI Wüst… - Reviews in Endocrine …, 2018 - Springer
Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially
during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most …

Acylcarnitines—old actors auditioning for new roles in metabolic physiology

CS McCoin, TA Knotts, SH Adams - Nature Reviews Endocrinology, 2015 - nature.com
Perturbations in metabolic pathways can cause substantial increases in plasma and tissue
concentrations of long-chain acylcarnitines (LCACs). For example, the levels of LCACs and …

Multi-omics microsampling for the profiling of lifestyle-associated changes in health

X Shen, R Kellogg, DJ Panyard, N Bararpour… - Nature Biomedical …, 2024 - nature.com
Current healthcare practices are reactive and use limited physiological and clinical
information, often collected months or years apart. Moreover, the discovery and profiling of …

ACG clinical guideline: liver disease and pregnancy

TT Tran, J Ahn, NS Reau - Official journal of the American College …, 2016 - journals.lww.com
Consultation for liver disease in pregnant women is a common and oftentimes vexing
clinical consultation for the gastroenterologist. The challenge lies in the need to consider the …

[HTML][HTML] Fatty acid oxidation disorders

II J Lawrence Merritt, M Norris… - Annals of translational …, 2018 - ncbi.nlm.nih.gov
Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism due to disruption of
either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport …

Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies

M Wajner, AU Amaral - Bioscience reports, 2016 - portlandpress.com
Mitochondrial fatty acid oxidation (FAO) plays a pivotal role in maintaining body energy
homoeostasis mainly during catabolic states. Oxidation of fatty acids requires approximately …

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

T Yavarna, N Al-Dewik, M Al-Mureikhi, R Ali… - Human genetics, 2015 - Springer
Clinical exome sequencing (CES) has become an increasingly popular diagnostic tool in
patients with heterogeneous genetic disorders, especially in those with neurocognitive …

Long‐Chain Acyl Carnitines Aggravate Polystyrene Nanoplastics‐Induced Atherosclerosis by Upregulating MARCO

B Wang, B Liang, Y Huang, Z Li, B Zhang… - Advanced …, 2023 - Wiley Online Library
Exposure to micro‐and nanoplastics (MNPs) is common because of their omnipresence in
environment. Recent studies have revealed that MNPs may cause atherosclerosis, but the …

Clinical manifestations and management of fatty acid oxidation disorders

JL Merritt, E MacLeod, A Jurecka, B Hainline - Reviews in Endocrine and …, 2020 - Springer
Fatty acid oxidation disorders (FAOD) are a group of rare, autosomal recessive, metabolic
disorders caused by variants of the genes for the enzymes and proteins involved in the …

Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency

K Yamada, T Taketani - Journal of human genetics, 2019 - nature.com
Mitochondrial fatty acid oxidation disorders (FAODs) are caused by defects in β-oxidation
enzymes, including very long-chain acyl-CoA dehydrogenase (VLCAD), trifunctional protein …