fanconi bickel syndrome is due to mutation of ?
Correct Answer: glut 2
Description: 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
Category:
Physiology
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