Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism due to reduced function of glucose tra...

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Veröffentlicht in:	PloS one 2017-09, Vol.12 (9), p.e0184022-e0184022
Hauptverfasser:	Cappuccio, Gerarda, Pinelli, Michele, Alagia, Marianna, Donti, Taraka, Day-Salvatore, Debra-Lynn, Veggiotti, Pierangelo, De Giorgis, Valentina, Lunghi, Simona, Vari, Maria Stella, Striano, Pasquale, Brunetti-Pierri, Nicola, Kennedy, Adam D, Elsea, Sarah H
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Amino acids Behavioral sciences Biochemistry Biological markers Biology and Life Sciences Biomarkers Biomarkers - metabolism Blood-brain barrier Carbohydrate Metabolism, Inborn Errors Care and treatment Carnitine Cerebrospinal fluid Childrens health Convulsions & seizures Diagnostic systems Diet, Ketogenic Disease Energy Metabolism Epilepsy Fatty acids Fatty Acids - metabolism Genetics Glucose Glucose transporter High fat diet Homeostasis Humans Hypoglycemia Inborn errors of metabolism Ketogenesis Low carbohydrate diet Maternal & child health Medical screening Medicine Medicine and Health Sciences Metabolism Metabolites Metabolomics Mitochondria Monosaccharide Transport Proteins - chemistry Monosaccharide Transport Proteins - deficiency Movement disorders Mutation Neurosciences Pathogenesis Patients Pediatrics Phenotype Phenotyping Physical Sciences Protein deficiency Urine
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