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Summary
FRUCTOSURIA
HEPATIC FRUCTOKINASE DEFICIENCY
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
Jain V,et al.Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory proteinEur J Endocrinol. 2011 Dec165(6):987-91. Epub 2011 Sep 27.1656987-9912011
Anderson KE,et al.Recommendations for the diagnosis and treatment of the acute porphyriasAnn Intern Med1426439-4502005