Dataset Information
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Ontology highlight
ABSTRACT: Objective
To interrogate the metabolic profile of five subjects from three families with rare, nonsense and missense mutations in SLC13A5 and Early Infantile Epileptic Encephalopathies (EIEE) characterized by severe, neonatal onset seizures, psychomotor retardation and global developmental delay.Methods
Mass spectrometry of plasma, CSF and urine was used to identify consistently dysregulated analytes in our subjects.Results
Distinctive elevations of citrate and dysregulation of citric acid cycle intermediates, supporting the hypothesis that loss of SLC13A5 function alters tricarboxylic acid cycle (TCA) metabolism and may disrupt metabolic compartmentation in the brain.Significance
Our results indicate that analysis of plasma citrate and other TCA analytes in SLC13A5 deficient patients define a diagnostic metabolic signature that can aid in diagnosing children with this disease.
SUBMITTER: Bainbridge MN
PROVIDER: S-EPMC7539367 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Publications
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Molecular genetics and metabolism 20170624 4
<h4>Objective</h4>To interrogate the metabolic profile of five subjects from three families with rare, nonsense and missense mutations in SLC13A5 and Early Infantile Epileptic Encephalopathies (EIEE) characterized by severe, neonatal onset seizures, psychomotor retardation and global developmental delay.<h4>Methods</h4>Mass spectrometry of plasma, CSF and urine was used to identify consistently dysregulated analytes in our subjects.<h4>Results</h4>Distinctive elevations of citrate and dysregulat ...[more]