Disease
Fructose-1,6-bisphosphatase deficiency1, 2, 3
Gene
FBP1
| Inheritance | AR |
|---|---|
| Current Treatments | Sucrose and fructose restricted diet, uncooked cornstarch to limit overnight fasting |
| Evidence for Treatment | guideline4, 5 |
| Non-Molecular Testing Availability | yes |
| Non-Molecular Test | fructose-1,6-bisphosphatase 1 (FBP1) activity in liver or mononuclear white blood cells2 |
| Disease Frequency (per 100,000) | 0.1956 |
| Genes Included in Disease Frequency | FBP1 |
| Experimental / Investigational Therapies | https://clinicaltrials.gov/ct2/results?cond=Fructose+bisphosphatase+deficiency&term=&cntry=&state=&city=&dist=&Search=Search |
References
- 1 https://www.ncbi.nlm.nih.gov/pubmed/25601412
- 2 https://pubmed.ncbi.nlm.nih.gov/31804789/
- 3 https://pubmed.ncbi.nlm.nih.gov/29370874/
- 4 https://www.ncbi.nlm.nih.gov/pubmed/29370874
- 5 http://www.bimdg.org.uk/store/guidelines/ER-f16bisP-v4_567327_09092016.pdf
- 6 https://www.ncbi.nlm.nih.gov/pubmed/28420223
Last Updated: March 5, 2026