has material basis in germline mutation in KHK essential fructosuria https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/fructosuria_essential MONDO:0009252 GARD:0006471 MEDGEN:78645 Orphanet:2056 icd11.foundation:1362211287 fructosuria, essential SCTID:40278002 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. MedDRA:10015487 DOID:0111680 fructokinase deficiency ICD10CM:E74.11 MESH:C538068 ketohexokinase deficiency OMIM:229800 UMLS:C0268160 disorder of fructose metabolism disorder of galactose and fructose metabolism