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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 consistent clinical signs or symptoms
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
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