De Vivo disease. GLUT-1 deficiency syndrome: a case report

GLUT-1 deficiency syndrome is a rare genetic disease where the specific glucose transporter through the brain barrier is deficient. GLUT-1 deficiency causes an array of symptoms that may vary considerably from one patient to another. Signs and symptoms may include seizures, movement disorders, speec...

Full description

Saved in:
Bibliographic Details
Published in:Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2014-03, Vol.21 (3), p.302-305
Main Authors: Daoudi, S, Lounis, M, Chibout, S, Bensaadi, N, Ait-kaci-Ahmed, M
Format: Article
Language:fre
Subjects:
Carbohydrate Metabolism, Inborn Errors - diagnosis
Humans
Infant
Male
Monosaccharide Transport Proteins - deficiency
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:GLUT-1 deficiency syndrome is a rare genetic disease where the specific glucose transporter through the brain barrier is deficient. GLUT-1 deficiency causes an array of symptoms that may vary considerably from one patient to another. Signs and symptoms may include seizures, movement disorders, speech and language disorders, and developmental delays. We report a case of an infant who presented myoclonic events often occurring prior to meals, associated with developmental delay. The diagnosis was made before the discovery of hypoglycorrhachia associated with normal plasma glucose, proven biochemically by DNA analysis. Treatment with a ketogenic diet proved to be successful in controlling the epilepsy.
ISSN:1769-664X
DOI:10.1016/j.arcped.2013.12.015