FRUCTOSURIA

Question 1

What is  FRUCTOSURIA?

Accepted Answer

rare (1:130000)
autosomal recessive
mutation in the KHK gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Fruktosurie; Essentielle Fruktosurie; Fruktokinase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 229800

Question 4

Which enzymes are involved?

Accepted Answer

Ketohexokinase

Disease	FRUCTOSURIA
Synonym	HEPATIC FRUCTOKINASE DEFICIENCY
OMIM	229800 OMIM = Online Mendelian Inheritance of Men
Orphanet	2056
Protein (UniProt)	Ketohexokinase
ExPASy	2.7.1.3
Gene locus	2p23.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Ketohexokinase (fructokinase)
ICD	E74.1
Summary	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