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Plasma metabolome reveals altered oxidative stress, inflammation, and amino acid metabolism in dogs with idiopathic epilepsy.
Epilepsia
January 2025
Equine and Companion Animal Nutrition, Department of Morphology, Imaging, Orthopedics, Rehabilitation, and Nutrition, Faculty of Veterinary Medicine, Ghent University, Ghent, Belgium.
Objective: Idiopathic epilepsy (IE) is the most common chronic neurological disease in dogs and an established natural animal model for human epilepsy types with genetic and unknown etiology. However, the metabolic pathways underlying IE remain largely unknown.
Methods: Plasma samples of healthy dogs (n = 39) and dogs with IE (n = 49) were metabolically profiled (n = 121 known target metabolites) and fingerprinted (n = 1825 untargeted features) using liquid chromatography coupled to mass spectrometry.
Interlinking the Cross Talk on Branched Chain Amino Acids, Water Soluble Vitamins and Adipokines in the Type 2 Diabetes Mellitus Etiology.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Biochemistry, KVG Medical College and Hospital, Sullia 574327, India.
Type 2 Diabetes Mellitus (T2DM) is an etiologically diverse metabolic dysfunction that, if untreated, leads to chronic hyperglycemia. Understanding the etiology of T2DM is critical, as it represents one of the most formidable medical challenges of the twenty-first century. Traditionally, insulin resistance has been recognized as the primary risk factor and a well-known consequence of type 2 diabetes.
View Article and Find Full Text PDFFeasibility of newborn screening for pyridoxine-dependent epilepsy.
Mol Genet Metab
January 2025
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address:
Background: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to diagnosis and treatment with pyridoxine, and many patients are diagnosed after six months of age when lysine reduction therapies have limited efficacy.
View Article and Find Full Text PDFDetermination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry.
Clin Chim Acta
February 2025
Newborn Screening, Clinical Biochemistry and Clinical Pharmacy Laboratory, Meyer Children's Hospital IRCCS, 50139 Florence, Italy; Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, 50139 Florence, Italy. Electronic address:
Article Synopsis
- Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder linked to abnormal lysine metabolism, with current diagnostics relying on unreliable biomarkers that are unstable and technically challenging to analyze.
- A new method was developed using LC-MS/MS to quantify two alternative biomarkers (2-OPP and 6-oxoPIP) from urine and plasma samples, which showed excellent stability and linearity in testing.
- This validated method offers a promising routine diagnostic tool for identifying and monitoring PDE in patients, potentially improving clinical outcomes.
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