Catalog

Glycogen storage disease due to GLUT2 deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to GLUT2 deficiency – http://id.who.int/icd/entity/426701963

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterised 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. generalised 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)