hereditary fructose intolerance
Findings
No curated finding names hereditary fructose intolerance yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.
Definition from the Mondo Disease Ontology (MONDO:0009249), read 2026-09-29. CC BY 4.0.
Features
25 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.
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Reduced circulating aldolase concentrationHPOHP:0012545
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- NauseaHPOHP:0002018
- Frequent (30% to 79% of cases)
- Abdominal distentionHPOHP:0003270
- Occasional (5% to 29% of cases)
- Abnormality of the coagulation cascade
Show the remaining 13
- HypermagnesemiaHPOHP:0002918
- Occasional (5% to 29% of cases)
- HyperuricemiaHPOHP:0002149
- Occasional (5% to 29% of cases)
- HypophosphatemiaHPOHP:0002148
- Occasional (5% to 29% of cases)
- JaundiceHPOHP:0000952
- Occasional (5% to 29% of cases)
- Metabolic acidosisHPOHP:0001942
- Occasional (5% to 29% of cases)
- Reactive hypoglycemiaHPOHP:0012051
- Occasional (5% to 29% of cases)
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.
- ALDOBHGNC:417
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: hereditary fructose intolerance
- Also called
- Fructosaemiafructose intoleranceFructose Intolerance, Hereditaryfructose-1,6-bisphosphate aldolase B deficiencyfructosemiahereditary fructose intolerance syndromehereditary fructose-1-phosphate aldolase deficiencyhereditary fructosemia