Article
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
PloS one - 1 Jan 2017
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
Abstract excerpt
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 transporter type 1. Clinical presentation of GLUT1-DS is heterogeneous and the disorder mirrors patients with epilepsy,...
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