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Physiology All India exam 27de4791

fanconi bickel syndrome is due to mutation of ?

A
glut 1
B
glut 2
C
glut 4
D
na+iodine channels
High-Yield Explanation
FANCONI--BICKEL SYNDROME * Hepatic glycogenesis with renal fanconi syndrome. * Rare AR disorder. * &;deficiency of GLUT 2 in .hepatocytes , pancreatic beta cells, intestinal * Proximal renal tubular dysfunction. * Presents in 1st year of life as FTT , rickets , hepatomegaly , renomegaly. ref : guyton and hall

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