essential fructosuria
Findings
No curated finding names essential fructosuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.
Definition from the Mondo Disease Ontology (MONDO:0009252), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Obligate (100% of cases)
- Elevated urine fructose levelHPOHP:6000804
- 3 of 3 reported patients
- Impairment of fructose metabolismHPOHP:0011033
- Obligate (100% of cases)
- Abnormal erythrocyte enzyme concentration or activityHPOHP:0030272
- Very frequent (80% to 99% of cases)
- Abnormal urine carbohydrate levelHPOHP:0031979
- Very frequent (80% to 99% of cases)
- Abnormality of glycolipid metabolismHPOHP:0010969
- Very frequent (80% to 99% of cases)
Reported absent (1)
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.
- KHKHGNC:6315
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: essential fructosuria
- Also called
- fructokinase deficiencyfructosuria, essentialketohexokinase deficiency