Essential fructosuria
Synonyms: Fructokinase deficiency · Ketohexokinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Essential fructosuria | Fructokinase deficiency · Ketohexokinase deficiency |
| fr | Fructosurie essentielle | Déficit en cétohexokinase · Déficit en fructokinase |
| de | Fruktosurie, essentielle | Fructokinase-Mangel · Ketohexokinase-Mangel |
| es | Fructosuria esencial | |
| it | Fruttosuria | Deficit di fruttochinasi |
| nl | Essentiële fructosurie | Deficiëntie van fructokinase · Deficiëntie van ketohexokinase |
| pt | Frutosúria essencial | Deficiência de cetohexocinase · Deficiência de frutocinase |
| pl | Fruktozuria | Niedobór fruktokinazy · Niedobór ketoheksokinazy |
| cs | Esenciální fruktosurie | Deficit fruktokinázy · Deficit ketohexokinázy |
| uk | Есенціальна фруктозурія | Дефіцит фруктокінази · Дефіцит кетогексокінази |
| zh | 特发性果糖尿 | 己酮糖(磷酸)激酶缺乏 |
| tr | Esansiyel fruktozüri | Fruktokinaz eksikliği · Ketoheksokinaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229800 | E | validated | |
| ICD-10 | E74.1 | NTBT | attributed | validated |
| ICD-11 | 5C51.5Y | NTBT | index | validated |
| MONDO | 0009252 | E | validated | |
| MeSH | C538068 | E | validated | |
| UMLS | C0268160 | E | validated | |
| MedDRA | 10015487 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:308463Disorder of fructose metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KHK | Disease-causing germline mutation(s) in | Assessed | HGNC:6315 | ENSG00000138030 | 614058 | 2p23.3 | ketohexokinase | 7833921[PMID]_19237742[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
6 annotations · validated 2021-07-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0011033 | Impairment of fructose metabolism | |
| Very frequent (99-80%) | ||
| HP:0030272 | Abnormal erythrocyte enzyme activity | |
| HP:0031979 | Abnormal urine carbohydrate level | |
| HP:0010969 | Abnormality of glycolipid metabolism | |
| Excluded (0%) | ||
| HP:0003074 | Hyperglycemia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 29664676 [PMID]_28368361[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2056
- This record as JSON: /data/d/2056.json