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essential fructosuria
Summary
- Synonym
-
- fructokinase deficiency
- hepatic fructokinase deficiency
- ketohexokinase deficiency
- Definition
- A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.
- Super Class
- autosomal recessive disease carbohydrate metabolic disorder
External Links
- Disease Ontology
- DOID:0111680
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- WikiPathways (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50053 | Ketohexokinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0011033 | Impairment of fructose metabolism |
| HP:0010969 | Abnormality of glycolipid metabolism |
| HP:0003074 | Hyperglycemia |
| HP:0000007 | Autosomal recessive inheritance |
