Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. FBS is caused by mutations in the SLC2A2 (GLUT2) gene, which encodes the glucose transporter. The typical clinical signs are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy, rickets, and markedly stunted growth.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H01947 Fanconi-Bickel syndrome
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06017 Glycogen metabolism
H01947 Fanconi-Bickel syndrome
Use of the term glycogenosis type XI is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase.
