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Summary
FRUCTOSURIA
229800
OMIM = Online Medalian Inheritance of Men
2056
2p23.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no treatment indicated/recommended
rare (1:130000)
autosomal recessive
mutation in the KHK gene
symptoms
no clinical signs or symptoms
laboratory finding
Fructose 10.0014.00increasedurine
Fructokinase 100.00decreased activityliver
reducing substances, urine (Clinitest)0.000.00 +urineno data
Literature
Chalmers RAet al.Diagnosis and management of trimethylaminuria (FMO3 deficiency) in childrenJ Inherit Metab Dis291162-1722006
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994