Glycogen storage disease type XI
Encyclopedia
Glycogen storage disease type XI is a form of glycogen storage disease
.
It is also known as "Fanconi-Bickel syndrome", for Guido Fanconi
and Horst Bickel
.
It is associated with GLUT2
.
Glycogen storage disease
Glycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism involved in these processes...
.
It is also known as "Fanconi-Bickel syndrome", for Guido Fanconi
Guido Fanconi
Guido Fanconi was a Swiss pediatrician. He was born in Poschiavo, Canton Grisons in the Italian-speaking region of Switzerland. Fanconi is regarded as one of the founders of modern pediatrics....
and Horst Bickel
Horst Bickel
Horst Bickel was a German doctor.With Guido Fanconi, he characterized Glycogen storage disease type XI in 1949.He was also involved in the development of treatments for phenylketonuria.-References:...
.
It is associated with GLUT2
GLUT2
Glucose transporter 2 also known as solute carrier family 2 , member 2 is a transmembrane carrier protein that enables passive glucose movement across cell membranes. It is the principal transporter for transfer of glucose between liver and blood, and for renal glucose reabsorption...
.