[Glucose transport hereditary diseases].

Abstract:

:Several heritable disorders of glucose transport across cellular membranes have been recently characterized both genetically and pathophysiologically. Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and GLUT1 deficiency syndrome are caused by mutation of transporters located in bowel, liver and brain, respectively. For example, the glucose transporter type 1 deficiency syndrome, a prototypical neurometabolic disease, combines manifestations such as epilepsy and hypoglycorrhachia, and is caused by heritable mutation of the SLC2A1 gene. All known glucose transporter mutations induce loss of membrane function at important cellular interfaces, limiting glucose uptake by energy-consuming cells. The fundamental role served by glucose transport allows these pleomorphic conditions to cross the boundaries of traditional clinical disciplines.

journal_name

Med Clin (Barc)

journal_title

Medicina clinica

authors

Pascual JM

doi

10.1157/13095099

subject

Has Abstract

pub_date

2006-11-11 00:00:00

pages

709-14

issue

18

eissn

0025-7753

issn

1578-8989

pii

S0025-7753(06)72370-3

journal_volume

127

pub_type

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