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Essential fructosuria

MedGen UID:
78645
•Concept ID:
C0268160
•
Disease or Syndrome
Synonyms: HEPATIC FRUCTOKINASE DEFICIENCY; KETOHEXOKINASE DEFICIENCY
SNOMED CT: Deficiency of ketohexokinase (124299001); Deficiency of fructokinase (124300009); Fructosuria (24338009); EF - Essential fructosemia (40278002); Essential benign fructosuria (40278002); Hepatic fructokinase deficiency (40278002); Essential fructosuria (40278002); Fructokinase deficiency (40278002); Benign fructosemia (40278002); Essential fructosemia (40278002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): KHK (2p23.3)
 
Monarch Initiative: MONDO:0009252
OMIM®: 229800
Orphanet: ORPHA2056

Definition

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). [from OMIM]

Clinical features

From HPO
Elevated urine fructose level
MedGen UID:
1053583
•Concept ID:
CN377953
•
Finding
Amount of fructose in the urine above the upper limit of normal.
See: Feature record | Search on this feature
Impairment of fructose metabolism
MedGen UID:
869161
•Concept ID:
C4023581
•
Finding
An impairment of a fructose metabolic process.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEssential fructosuria

Recent clinical studies

Etiology

Prevalence and cardiometabolic correlates of ketohexokinase gene variants among UK Biobank participants.
Johnston JA, Nelson DR, Bhatnagar P, Curtis SE, Chen Y, MacKrell JG
PLoS One 2021;16(2):e0247683. Epub 2021 Feb 23 doi: 10.1371/journal.pone.0247683. PMID: 33621267Free PMC Article
Expression, purification and preliminary crystallographic studies of human ketohexokinase.
Kozak M, Hayward B, Borek D, Bonthron DT, Jaskólski M
Acta Crystallogr D Biol Crystallogr 2001 Apr;57(Pt 4):586-8. doi: 10.1107/s0907444901001007. PMID: 11264590

Diagnosis

Doctor, my son is so tired... about a case of hereditary fructose intolerance.
Guery MJ, Douillard C, Marcelli-Tourvieille S, Dobbelaere D, Wemeau JL, Vantyghem MC
Ann Endocrinol (Paris) 2007 Dec;68(6):456-9. Epub 2007 Nov 26 doi: 10.1016/j.ando.2007.09.002. PMID: 18035330
The diagnosis of hereditary fructose intolerance.
Steinmann B, Gitzelmann R
Helv Paediatr Acta 1981 Sep;36(4):297-316. PMID: 6268573
Disorders of fructose metabolism.
Froesch ER
Clin Endocrinol Metab 1976 Nov;5(3):599-611. doi: 10.1016/s0300-595x(76)80042-4. PMID: 189957
ESSENTIAL FRUCTOSURIA.
LEONIDAS JC
N Y State J Med 1965 Sep 1;65:2257-9. PMID: 14336309

Therapy

Doctor, my son is so tired... about a case of hereditary fructose intolerance.
Guery MJ, Douillard C, Marcelli-Tourvieille S, Dobbelaere D, Wemeau JL, Vantyghem MC
Ann Endocrinol (Paris) 2007 Dec;68(6):456-9. Epub 2007 Nov 26 doi: 10.1016/j.ando.2007.09.002. PMID: 18035330
Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy.
Boesiger P, Buchli R, Meier D, Steinmann B, Gitzelmann R
Pediatr Res 1994 Oct;36(4):436-40. doi: 10.1203/00006450-199410000-00004. PMID: 7816517

Prognosis

A mathematical analysis of adaptations to the metabolic fate of fructose in essential fructosuria subjects.
Allen RJ, Musante CJ
Am J Physiol Endocrinol Metab 2018 Sep 1;315(3):E394-E403. Epub 2018 Apr 17 doi: 10.1152/ajpendo.00317.2017. PMID: 29664676

Clinical prediction guides

Prevalence and cardiometabolic correlates of ketohexokinase gene variants among UK Biobank participants.
Johnston JA, Nelson DR, Bhatnagar P, Curtis SE, Chen Y, MacKrell JG
PLoS One 2021;16(2):e0247683. Epub 2021 Feb 23 doi: 10.1371/journal.pone.0247683. PMID: 33621267Free PMC Article
A mathematical analysis of adaptations to the metabolic fate of fructose in essential fructosuria subjects.
Allen RJ, Musante CJ
Am J Physiol Endocrinol Metab 2018 Sep 1;315(3):E394-E403. Epub 2018 Apr 17 doi: 10.1152/ajpendo.00317.2017. PMID: 29664676
The diagnosis of hereditary fructose intolerance.
Steinmann B, Gitzelmann R
Helv Paediatr Acta 1981 Sep;36(4):297-316. PMID: 6268573

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