Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) 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. Disease data Klasyfikacja Disease Synonimy Fructokinase deficiency Niedobór fruktokinazy Niedobór ketoheksokinazy Ketohexokinase deficiency Kod ORPHA 2056 Kod OMIM 229800 Kod ICD10 E74.1 Kod ICD11 5C51.5Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl