A new mutation of Fanconi–Bickel syndrome with liver failure and pseudotumour cerebri

Fanconi-Bickel syndrome (FBS: MIM227810) or glycogen storage disease type XI (GSD11) is a rare autosomal recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2), which transports glucose in and out of the hepatocytes, pancreatic cells, and the basolateral membranes of...

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Bibliographic Details
Published in:Journal of genetics 2012-12, Vol.91 (3), p.359-361
Main Authors: Karamizadeh, Zohreh, Saki, Forough, Imanieh, Mohammad Hadi, Zahmatkeshan, Mojgan, Fardaee, Majid
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Base Sequence
Biomedical and Life Sciences
DNA Mutational Analysis
Ethylenediaminetetraacetic acid
Evolutionary Biology
Fanconi Syndrome - complications
Fanconi Syndrome - genetics
Fatal Outcome
Genetic aspects
Genetic disorders
Glucose
Glucose Transporter Type 2 - genetics
Glycogen
Humans
Infant
Infant, Newborn
Life Sciences
Liver
Liver diseases
Liver Failure - complications
Male
Microbial Genetics and Genomics
Mutation
Pediatric gastroenterology
Plant Genetics and Genomics
Pseudotumor Cerebri - complications
Research Note
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Summary:Fanconi-Bickel syndrome (FBS: MIM227810) or glycogen storage disease type XI (GSD11) is a rare autosomal recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2), which transports glucose in and out of the hepatocytes, pancreatic cells, and the basolateral membranes of the interstitial and renal epithelial cells. The affected child typically presents in the 1st year of life with failure to thrive, rickets, hepatomegaly, hypoglycemia, and characteristic tubular nephropathy. Here, we report a novel mutation of GLUT-2 gene that causes Fanconi-Bickel syndrome. Moreover, we show that pseudotumour cerebri and liver failure might be novel presentations of Fanconi Bickel syndrome and they might be associated with this new mutation.
ISSN:0022-1333
0973-7731
DOI:10.1007/s12041-012-0198-7