Publications by authors named "Margrethe Kjeldsen"
Differences in the urinary metabolome and proteome between wet and dry nights in children with monosymptomatic nocturnal enuresis and nocturnal polyuria.
Pediatr Nephrol
October 2023
Article Synopsis
- This study investigated urine samples from boys with monosymptomatic nocturnal enuresis (MNE) to compare metabolic and protein differences between wet and dry nights.
- On wet nights, researchers found lower urine concentration (osmolality) and higher levels of potassium and sodium, along with significant differences in 59 metabolites and 84 proteins.
- The findings suggest increased oxidative stress and sympathetic activity on wet nights, indicating complex mechanisms influencing MNE in children, including fluid and solute regulation.
Ethylmalonic acid (EMA) is a major and potentially cytotoxic metabolite associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency, a condition whose status as a disease is uncertain. Unexplained high EMA is observed in some individuals with complex neurological symptoms, who carry the SCAD gene (ACADS) variants, c.625G>A and c.
View Article and Find Full Text PDFExpanded newborn screening uses tandem mass spectrometry (MS/MS) to identify patients affected with fatty acid oxidation defects by the presence of pathological acylcarnitine esters. A caveat to MS/MS assessment is that cut-off values for disease-specific acylcarnitines does not always clearly discriminate affected patients from carriers and healthy individuals. Diagnostic evaluation of screening-positive samples is required to confirm a metabolic deficiency.
View Article and Find Full Text PDFMitochondrial dysfunction and oxidative stress are central to the molecular basis of several human diseases associated with neuromuscular disabilities. We hypothesize that mitochondrial dysfunction also contributes to the neuromuscular symptoms observed in patients with ethylmalonic aciduria and homozygosity for ACADS c.625G>A-a common variant of the short-chain acyl-coenzyme A (CoA) dehydrogenase (SCAD) enzyme in the mitochondrial fatty acid oxidation pathway.
View Article and Find Full Text PDFShort-chain acyl-CoA dehydrogenase (SCAD) deficiency is an inherited disorder of mitochondrial fatty acid oxidation associated with variations in the ACADS gene and variable clinical symptoms. In addition to rare ACADS inactivating variations, two common variations, c.511C > T (p.
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