Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Mol Genet Metab
; 121(4): 314-319, 2017 08.
Article
em En
| MEDLINE
| ID: mdl-28673551
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Espasmos Infantis
/
Ciclo do Ácido Cítrico
/
Simportadores
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
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Female
/
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article