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Essential fructosuria

Disease definition

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.

ORPHA:2056

Classification level: Disorder
  • Synonym(s):
    • Fructokinase deficiency
    • Ketohexokinase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E74.1
  • ICD-11: 5C51.5Y
  • OMIM: 229800
  • UMLS: C0268160
  • MeSH: C538068
  • GARD: -
  • MedDRA: 10015487

  A summary on this disease is available in Italiano (2015) Español (2015) Français (2015) Nederlands (2015) Deutsch (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.