Results 41 to 50 of about 10,400 (184)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data. [PDF]

J Inherit Metab Dis
ABSTRACT A critical concern of newborn screening (NBS) for very‐long chain acyl‐CoA dehydrogenase deficiency (VLCADD) is the difficulty of predicting clinical outcomes. To address this, we investigated neonatal C18:2‐carnitine concentrations as a possible predictor of VLCADD phenotype.
Schwantje M, Maase RE, Dekkers E, Ferdinandusse S, Vaz FM, Hörster F, Mütze U, Grünert SC, Visser G, Velden MGMS, Fuchs SA.   +10 more
europepmc   +2 more sources

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

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Correlation of Serum Acylcarnitines with Clinical Presentation and Severity of Coronary Artery Disease

Biomolecules, 2022
Recent studies support that acylcarnitines exert a significant role in cardiovascular disease development and progression. The aim of this metabolomics-based study was to investigate the association of serum acylcarnitine levels with coronary artery ...
Olga Deda, Eleftherios Panteris, Thomas Meikopoulos, Olga Begou, Thomai Mouskeftara, Efstratios Karagiannidis, Andreas S. Papazoglou, Georgios Sianos, Georgios Theodoridis, Helen Gika   +9 more
doaj   +1 more source

Overview of Encapsulated Lysine and Methionine and Their Impacts on Transition Cow Performance and Health

Animal Research and One Health, EarlyView.
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem, Samy A. Elsaadawy, Zhaohai Wu, Lu Ma, Todd R. Callaway, Dengpan Bu   +5 more
wiley   +1 more source

Characterization of C5 Acylcarnitines and Related Dicarboxylic Acylcarnitines in Saudi Newborns: Screening, Confirmation, and Cutoff Variation

International Journal of Neonatal Screening
Newborn screening (NBS) is a nationwide program for the early detection of disability in the Saudi population. This study focused on specific disorders related to organic acids that share C5 acylcarnitines derivatives and related dicarboxylic ...
Hanadi A. Bokhari, Ahmed H. Mujamammi, Huda A. Bader, Hannadi J. Alamri, Khalid K. Alharbi   +4 more
doaj   +1 more source

Relation of Whole Blood Amino Acid and Acylcarnitine Metabolome to Age, Sex, BMI, Puberty, and Metabolic Markers in Children and Adolescents

Metabolites, 2020
Background: Changes in the metabolic fingerprint of blood during child growth and development are a largely under-investigated area of research. The examination of such aspects requires a cohort of healthy children and adolescents who have been subjected
Josephin Hirschel, Mandy Vogel, Ronny Baber, Antje Garten, Carl Beuchel, Yvonne Dietz, Julia Dittrich, Antje Körner, Wieland Kiess, Uta Ceglarek   +9 more
doaj   +1 more source

Serum acylcarnitines levels as a potential predictor for gestational diabetes: a systematic review and meta-analysis

Frontiers in Public Health, 2023
AimsGestational diabetes mellitus (GDM) stands as a prevalent obstetric complication bearing consequential health implications for both mother and child.
Hairong Luo, Zanlei Zhu
doaj   +1 more source

NMR Characterization of Long-Chain Fatty Acylcarnitine Binding to the Mitochondrial Carnitine/Acylcarnitine Carrier

International Journal of Molecular Sciences, 2022
The mitochondrial carnitine/acylcarnitine carrier (CAC) transports short-, medium- and long-carbon chain acylcarnitines across the mitochondrial inner membrane in exchange for carnitine. How CAC recognizes the substrates with various fatty acyl groups, especially long-chain fatty acyl groups, remains unclear. Here, using nuclear magnetic resonance (NMR)
Ningning Zhang, Xiaopu Jia, Shuai Fan, Bin Wu, Shuqing Wang, Bo OuYang   +5 more
openaire   +2 more sources