essential fructosuria

Term ID

DOID:0111680

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/7833921

References

• ICD10CM:E74.11
• MEDDRA:10015487
• MESH:C538068
• MIM:229800
• ORDO:2056
• SNOMEDCT_US_2023_03_01:124300009
• UMLS_CUI:C0268160

Ontology

Human Disease   ( DOID:0111680 )