Fanconi–Bickel syndrome

Also known as: Glycogen storage disease type XI

Renal tubulopathy with hepatorenal glycogen accumulation and rickets.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Metabolic disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: SLC2A2

Etiology & mechanism

GLUT2 deficiency.

Gene(s) involved (1)

SLC2A2

Symptoms & signs (7)

failure to thrivefasting hypoglycemiaglucosuriahepatomegalypolyuriaproteinuriarickets

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