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FRUCTOSURIA

FRUCTOSURIA
HEPATIC FRUCTOKINASE DEFICIENCY
229800
OMIM = Online Mendelian Inheritance of Men
2056
Ketohexokinase
2.7.1.3
2p23.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E74.1
rare (1:130000)
autosomal recessive
mutation in the KHK gene
Laboratory findings    Fructokinase dec (liver)
    Fructose inc (urine)
    reducing substances, urine (Clinitest) inc (urine)
Symptoms    no clinical symptoms (probably)
    onset, adolescent
    onset, childhood
    onset, infancy
    onset, neonatal