glycogen storage disease due to GLUT2 deficiency
Findings
No curated finding names glycogen storage disease due to GLUT2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009216), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Fasting hypoglycemiaHPOHP:0003162
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Generalized aminoaciduriaHPOHP:0002909
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- GlycosuriaHPOHP:0003076
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Impairment of galactose metabolismHPOHP:0004915
- 3 of 3 reported patients
- Abnormal hepatic glycogen storageHPOHP:0500030
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 1 of 3 reported patients
Show the remaining 29
- Beta 2-microglobulinuriaHPOHP:0025466
- 2 of 3 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Growth delayHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC2A2HGNC:11006
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
8 names
Resolves to: glycogen storage disease due to GLUT2 deficiency
- Also called
- Bickel-Fanconi glycogenosisFanconi Bickel syndromeFanconi syndrome with intestinal malabsorption and galactose intoleranceFanconi-Bickel diseaseFanconi-Bickel syndromeFBSglycogenosis due to GLUT2 deficiencyGSD due to GLUT2 deficiency