Preferred Label : Glycogen storage disease due to GLUT2 deficiency;
ICD-11 definition : Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized
by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired
glucose and galactose metabolism. Onset occurs during the first few months of life
with failure to thrive, polyuria and rickets related to proximal tubular losses. Growth
retardation and hepatosplenomegaly resulting in a protruding abdomen are evident by
early childhood. Puberty is delayed. Generalized osteopenia leading to fractures during
childhood, with osteoporosis later in life, has also been reported. Some patients
also display an abnormal fat distribution. FBG is transmitted as an autosomal recessive
trait and is caused by homozygous or compound heterozygous mutations in the SLC2A2
gene (3q26.2-q27);
ICD-11 synonym : Fanconi-Bickel syndrome; Glycogen storage disease type 11; Facilitated glucose transporter protein type 2 deficiency; Fanconi-Bickel glycogenosis; GSD type 11; Bickel-Fanconi disease; Glycogenosis type 11;
Origin ID : 426701963;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Validated automatic mappings to NTBT
Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized
by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired
glucose and galactose metabolism. Onset occurs during the first few months of life
with failure to thrive, polyuria and rickets related to proximal tubular losses. Growth
retardation and hepatosplenomegaly resulting in a protruding abdomen are evident by
early childhood. Puberty is delayed. Generalized osteopenia leading to fractures during
childhood, with osteoporosis later in life, has also been reported. Some patients
also display an abnormal fat distribution. FBG is transmitted as an autosomal recessive
trait and is caused by homozygous or compound heterozygous mutations in the SLC2A2
gene (3q26.2-q27)
