Hereditary fructosuria: genes and variants
Hereditary fructosuria is linked to 1 analyzed protein (ALDOB). 19 DNA variants are known to cause it; 60 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hereditary fructosuria
ALDOB: Fructose-bisphosphate aldolase B
It cleaves fructose-1-phosphate and fructose-1,6-bisphosphate during fructose and glucose metabolism in liver, kidney, and intestine. Biallelic loss-of-function variants cause hereditary fructose intolerance, in which fructose ingestion can trigger hypoglycemia, vomiting, and liver injury.
19 disease-causing and 60 uncertain variants in ALDOB are linked to Hereditary fructosuria.
Known disease-causing variants in Hereditary fructosuria
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ALDOB A150P | 150 | Disease-causing (★★★★) | |
| ALDOB N335K | 335 | Disease-causing (★★★★) | |
| ALDOB M1T | 1 | Disease-causing (★★) | |
| ALDOB M1V | 1 | Disease-causing (★★) | |
| ALDOB V222F | 222 | Disease-causing (★★) | |
| ALDOB L257P | 257 | Disease-causing (★★) | |
| ALDOB A338V | 338 | Disease-causing (★★) | |
| ALDOB M1R | 1 | Disease-causing (★) | |
| ALDOB M1L | 1 | Disease-causing (★) | |
| ALDOB L229P | 229 | Disease-causing (★) | |
| ALDOB G76V | 76 | Disease-causing (★) | |
| ALDOB L271S | 271 | Disease-causing (★) | |
| ALDOB R57P | 57 | Disease-causing | |
| ALDOB C135R | 135 | Disease-causing | |
| ALDOB C178R | 178 | Disease-causing | |
| ALDOB P185R | 185 | Disease-causing | |
| ALDOB G226D | 226 | Disease-causing | |
| ALDOB A280D | 280 | Disease-causing | |
| ALDOB L311P | 311 | Disease-causing |
Diseases related to Hereditary fructosuria
- Glycogen storage disease, also linked to ALDOB
Frequently asked questions
Which genes are linked to Hereditary fructosuria?
In CATVariant, Hereditary fructosuria is linked to 1 analyzed protein: ALDOB (Fructose-bisphosphate aldolase B).
How many genetic variants are linked to Hereditary fructosuria?
81 variants: 19 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 60 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary fructosuria look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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