Ontology highlight
ABSTRACT:
SUBMITTER: Dweikat IM
PROVIDER: S-EPMC4973067 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Dweikat Imad Mohammad IM Alawneh Issa Shaher IS Bahar Sami Fares SF Sultan Mutaz Idrees MI
BMC research notes 20160804
<h4>Background</h4>Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit Metab Dis 21:191-194, 1998). The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato- and nephromegaly, impaired utilization of glucose and galactose, proximal renal tubular dysfunction, rickets and severe short sta ...[more]