Table 2 Differential diagnosis of Fanconi-Bickel disease
Disorder | Gene | Location | Common phenotype with FBS | Differences with FBS | Inheritance |
|---|---|---|---|---|---|
Glycogen storage disase type 1 | G6PC | 17q21.3 | Hepatomegaly, fasting hypoglycemia, elevated transaminases; facies doll-like; intermittent diarrhea. | Hypertension often detected in the second life; hepatic adenomas, reduced von Willebrand factor | AR |
Glycogen storage disase type 3 | AGL | 1p21.2 | Hepatomegaly, fasting hypoglicemia, elevated transminases, osteoporosis. | Midface hypoplasia; cardiomyopathy; muscle weakness; normal blood lactate; type 2 diabetes mellitus | AR |
Fructose 1,6 bisphosphonate | FBP1 | 9q22.32 | Hepatomegaly, fasting hypoglycemia, elevated transaminases; hypotonia. | Onset in newborns tachycardia, sorbitol and glycerol intolerance; episodic of acute crisis (pulmonary or neurologic); pseudohypertrigliceridemia; lactic acidosis triggered by fasting or febrile infection | AR |