Introduction: Fanconi-Bickel disease is a rare disorder in the metabolism of carbohydrates. The disease is transmitted by heredity recessive autosomi. Somebodies have classified this diease as a glycogenosis that does not appear to be correct, because the cause of this disease not a disorder in the metabolism of glycogen, realy it is due to impairment of saccarides transfer into the membranous GLUT2 channel. The properties consist of: hepatorenal glycogenose, proximal RTA, impaired glucose and galactose consumption, manage resistant hypophosphatemic rickets and delay the growth resulting from it. But being non-typical cues could wrongly lead to another initial diagnosis like osteogenesis imperfecta.
Patient Information: 3.5-year-old girl with the probable diagnosis of osteogenesis imperfecta was admitted for periodical treatment by pamydronat. The child resulting from consanguineous marriages and in history of pregnancy and maternity there was not any problem. Because of the delay in motion and repeated fractures, suspicion to osteogenesis imperfecta disease was initially raised. In the follow up of the next turned the patient revealed resistant rickets. Gradually hepatomegaly appearead and the biopsy emphasized glycogen accumulation. Then gradually renal affliction -fanconi syndrome and RTA- were revealed.
Conclusion: According to the mentioned symptoms, the very rare diseases Fanconi-Bickel syndrome was raised for the patient. By molecular Study on operating gene called Glucose transporter 2 (GLUT2), this disease was confirmed. This type of mutant is recognized for the first time that has not already been reported in medical resources.