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 |
SNOMEDCT_US_2023_03_01:124300009 |
Subsets |
DO_rare_slim |
Synonyms |
fructokinase deficiency [EXACT] hepatic fructokinase deficiency [EXACT] ketohexokinase deficiency [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |