| Metadata | |
|---|---|
| ID | DOID:0111680 |
| Name | essential fructosuria |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/7833921 |
| Xrefs |
MEDDRA:10015487 SNOMEDCT_US_2023_03_01:124300009 |
| Subsets |
DO_rare_slim |
| Synonyms |
fructokinase deficiency [EXACT] hepatic fructokinase deficiency [EXACT] ketohexokinase deficiency [EXACT] |
| Parent Relationships |