A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

GLUT1 Deficiency Syndrome (GLUT1-DS) is a rare and potentially treatable neurometabolic condition, caused by a reduced glucose transport into the brain and clinically characterized by an epileptic encephalopathy with movement disorders. A wide inter-intrafamilial phenotypic variability has been repo...

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Bibliographic Details
Main Authors: Olimpia Musumeci, Edoardo Ferlazzo, Carmelo Rodolico, Antonio Gambardella, Monica Gagliardi, Umberto Aguglia, Antonio Toscano
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-06-01
Series:Frontiers in Neurology
Subjects:
GLUT1-DS
VLCAD
rhabdomyolysis
metabolic myopathy
genetic “double-trouble”
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00514/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2020.00514/full

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