Disease Info Card

Glut-1 Deficiency Syndrome

Information about Glut-1 Deficiency Syndrome: characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us.

Overview of Glut-1 Deficiency Syndrome

Most recent studies have shown that Glut-1 Deficiency Syndrome shares some biological mechanisms with absence-epilepsy, ataxia, brain-diseases-metabolic-inborn, chorea, developmental-delay-(disorder), developmental-disabilities, dyskinetic-syndrome, encephalopathies, epilepsies-myoclonic, epilepsy, haploinsufficiency, hypoglycemia, ketosis, microcephaly, movement-disorders, muscle-hypotonia, muscle-spasticity, pyruvate-dehydrogenase-complex-deficiency-disease.

Among the many pathways, these few ones have gauged particular interests from scientists studying Glut-1 Deficiency Syndrome, and have been seen in publications frequently: Brain Development, Carbohydrate Homeostasis, Endocytosis, Glucose Transport, Glycolysis, Lipid Homeostasis, Localization, Myelination, Oxidative Phosphorylation, Transport, Urate Transport

Quite a number of genes have been found to play important roles in Glut-1 Deficiency Syndrome, such as CAMP, CASP3, CMA1, CSF2, DHDDS, DHPS, LAMC2, MCTS1, MTSS1, PRPH2, SLC16A1, SLC16A7, SLC22A12, SLC2A1, SLC2A12, SLC2A14, SLC2A3, SLC2A9, STOM. See what Boster has to offer for the research of these genes by clicking the gene name links below and view a more detailed info card/product listing for that gene.

In a later update, we will include information such as current drugs and therapy solutions as well as on-going and past clinical trials for this disease. Plesae stay updated.

Glut-1 Deficiency Syndrome Related Genes

click to see detail information for each gene

CAMP CASP3 CMA1
CSF2 DHDDS DHPS
LAMC2 MCTS1 MTSS1
PRPH2 SLC16A1 SLC16A7
SLC22A12 SLC2A1 SLC2A12
SLC2A14 SLC2A3 SLC2A9
STOM

Pathways Related to Glut-1 Deficiency Syndrome

This information is being compiled and will come in a future update

Brain Development Carbohydrate Homeostasis Endocytosis
Glucose Transport Glycolysis Lipid Homeostasis
Localization Myelination Oxidative Phosphorylation
Transport Urate Transport