Essential fructosuria

Synonyms: HEPATIC FRUCTOKINASE DEFICIENCY; KETOHEXOKINASE DEFICIENCY

Summary

Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Biochemical Genetics Tests

Analyte (2)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

KHK
Also known as: FRUCTU, KHK
Summary: ketohexokinase

Imported from Human Phenotype Ontology (HPO)

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Abnormality of metabolism/homeostasis
- Impairment of fructose metabolism
  Impairment of fructose metabolism
  - MedGen UID: 869161
  - Concept ID: C4023581
  - Finding: Finding
  Abnormality of metabolism/homeostasis
  See: Feature record | Search on this feature
Abnormality of the genitourinary system
- Elevated urine fructose level
  Elevated urine fructose level
  - MedGen UID: 1053583
  - Concept ID: CN377953
  - Finding: Finding
  Abnormality of the genitourinary system
  See: Feature record | Search on this feature

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