Essential fructosuria

General Information (adopted from Orphanet):

Synonyms, Signs: HEPATIC FRUCTOKINASE DEFICIENCY
ketohexokinase deficiency
Fructokinase deficiency
Number of Symptoms 3
OrphanetNr: 2056
OMIM Id: 229800
ICD-10: E74.1
UMLs:
MeSH: C538068
MedDRA:
Snomed: 24338009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of fructose metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0011033) Impairment of fructose metabolism 1 / 7739
2
(OMIM) Fructosuria 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994).
Clinical Description OMIM In individuals with essential fructosuria, ingestion of dietary fructose, sucrose, or sorbitol is followed by an abnormally large and persistent rise in blood fructose concentration and by excretion of 10 to 20% of the ingested load in the ...
Molecular genetics OMIM In a well-characterized family in which 3 of 8 sibs had fructosuria (Steinmann and Gitzelmann, 1981; Gitzelmann et al., 1989; Boesiger et al., 1994), Bonthron et al. (1994) found that all affected individuals were compound heterozygous for 2 ...