Conditions / Genetic
Fanconi-Bickel syndrome
info · Genetic
A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene o
A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.
Signs and symptoms
- Glycosuria
- Impairment of galactose metabolism
- Fasting hypoglycemia
- Generalized aminoaciduria
- Beta 2-microglobulinuria
- Hepatomegaly
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Malabsorption
- Abdominal distention
Also known as: FBS; glycogen storage disease XI; glycogenosis type XI; glycogenosis, Fanconi type