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essential fructosuria

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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.
Uniprot Description Benign defect of intermediary metabolism.
Mondo Term and Equivalent IDs
MONDO:0009252:  essential fructosuria
DOID:0111680: 
ICD10:E74.11: 
MESH:C538068: 
Orphanet:2056: 
SCTID:40278002: 
UMLS:C0268160: