MCID: FRC002
MIFTS: 44

Fructose Intolerance malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Liver diseases, Nephrological diseases, Metabolic diseases categories

Summaries for Fructose Intolerance

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NIH Rare Diseases:41 Hereditary fructose intolerance (hfi) is a metabolic disease caused by the absence of an enzyme called aldolase b. in people with hfi, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and progressive liver damage. in addition, blocked processing of fructose will cause a build-up of substances that damage the liver. hfi may be relatively mild or a very severe disease, and treatment involves eliminating fructose and sucrose from the diet. in the severe form, eliminating these sugars from the diet may not prevent progressive liver disease. last updated: 3/17/2009

MalaCards based summary: Fructose Intolerance, also known as hereditary fructose intolerance, is related to acquired fructose intolerance and galactosemia, and has symptoms including autosomal recessive inheritance, proximal tubulopathy and jaundice. An important gene associated with Fructose Intolerance is ALDOB (aldolase B, fructose-bisphosphate), and among its related pathways are MPS VI - Maroteaux-Lamy syndrome and Carbon metabolism. The compounds D-Erythrose 4-phosphate and D-Glyceraldehyde 3-phosphate have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes.

Genetics Home Reference:21 Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. After ingesting fructose, individuals with hereditary fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive).

OMIM:45 Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet.... (229600) more...

Wikipedia:63 Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency... more...

Aliases & Classifications for Fructose Intolerance

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Fructose Intolerance, Aliases & Descriptions:

Name: Fructose Intolerance 45 10 21
Hereditary Fructose Intolerance 41 21 43 47
Hereditary Fructose Intolerance Syndrome 9 11 60
Aldolase B Deficiency 41 21 60
Hereditary Fructose-1-Phosphate Aldolase Deficiency 41 47
Fructose-1,6-Bisphosphate Aldolase B Deficiency 9 41
Fructose-1-Phosphate Aldolase Deficiency 41 21
 
Fructose Intolerance, Hereditary 41 20
Hereditary Fructosemia 41 47
Aldob Deficiency 41 21
Fructosemia 9 21
Fructose-1,6-Biphosphate Aldolase Deficiency 21
Fructose Aldolase B Deficiency 21
Fructosaemia 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
hereditary fructose intolerance:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 229600
Disease Ontology9 DOID:9869
MeSH33 D005633
NCIt38 C84720
ICD9CM27 271.2
Orphanet47 469
MESH via Orphanet34 D005633
ICD10 via Orphanet26 E74.1

Related Diseases for Fructose Intolerance

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Diseases in the Fructose Intolerance family:

Acquired Fructose Intolerance

Diseases related to Fructose Intolerance via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1acquired fructose intolerance10.7
2galactosemia10.4
3fructosuria10.4
4fructose-1,6-bisphosphatase deficiency10.2
5tay-sachs disease10.2
6duchenne muscular dystrophy10.2
7glycogen storage disease10.2
8liver disease10.2
9renal tubular acidosis10.2
10hyperuricemia10.2
11fatty liver disease10.2
12fanconi syndrome10.2
13cystinosis10.2
14muscular dystrophy10.2
15metabolic syndrome x9.9TALDO1, SUOX
16serine deficiency9.7TALDO1, SUOX

Graphical network of diseases related to Fructose Intolerance:



Diseases related to fructose intolerance

Symptoms for Fructose Intolerance

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Symptoms by clinical synopsis from OMIM:

229600

Clinical features from OMIM:

229600

HPO human phenotypes related to Fructose Intolerance:

(show all 30)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 proximal tubulopathy HP:0000114
3 jaundice HP:0000952
4 intellectual disability HP:0001249
5 seizures HP:0001250
6 lethargy HP:0001254
7 coma HP:0001259
8 cirrhosis HP:0001394
9 hepatic steatosis HP:0001397
10 failure to thrive HP:0001508
11 metabolic acidosis HP:0001942
12 hypoglycemia HP:0001943
13 vomiting HP:0002013
14 nausea HP:0002018
15 abdominal pain HP:0002027
16 proximal renal tubular acidosis HP:0002049
17 hypophosphatemia HP:0002148
18 hyperuricemia HP:0002149
19 gastrointestinal hemorrhage HP:0002239
20 hepatomegaly HP:0002240
21 hyperbilirubinemia HP:0002904
22 elevated hepatic transaminases HP:0002910
23 glycosuria HP:0003076
24 hyperphosphaturia HP:0003109
25 lactic acidosis HP:0003128
26 hyperuricosuria HP:0003149
27 bicarbonaturia HP:0003646
28 malnutrition HP:0004395
29 fructose intolerance HP:0005973
30 transient aminoaciduria HP:0008273

Drugs & Therapeutics for Fructose Intolerance

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Drug clinical trials:

Search ClinicalTrials for Fructose Intolerance

Search NIH Clinical Center for Fructose Intolerance

Genetic Tests for Fructose Intolerance

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Genetic tests related to Fructose Intolerance:

id Genetic test Affiliating Genes
1 Hereditary Fructose Intolerance20 ALDOB

Anatomical Context for Fructose Intolerance

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MalaCards organs/tissues related to Fructose Intolerance:

31
Liver, Kidney, Testes

Animal Models for Fructose Intolerance or affiliated genes

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Publications for Fructose Intolerance

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Articles related to Fructose Intolerance:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. (23114028)
2012
2
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. (20882353)
2010
3
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (20033295)
2010
4
The biochemical basis of hereditary fructose intolerance. (20162364)
2010
5
Adult hereditary fructose intolerance. (19452588)
2009
6
Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. (18541450)
2008
7
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. (18188031)
2008
8
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. (17457694)
2007
9
Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia. (17515832)
2007
10
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance. (17955389)
2007
11
Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance. (17292585)
2007
12
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. (16406649)
2006
13
Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance. (15733923)
2005
14
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. (12417303)
2002
15
Simple method for detection of mutations causing hereditary fructose intolerance. (12638940)
2002
16
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. (12205126)
2002
17
The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. (12464284)
2002
18
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. (11021009)
2000
19
Hereditary fructose intolerance and alpha(1) antitrypsin deficiency. (10869005)
2000
20
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. (10970798)
2000
21
Screening for hereditary fructose intolerance mutations by reverse dot-blot. (10024431)
1999
22
Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance. (10229688)
1999
23
Hereditary fructose intolerance. (9610797)
1998
24
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. (8933337)
1996
25
A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand. (8829634)
1996
26
Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (8535439)
1995
27
Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. (7717389)
1995
28
A partially active mutant aldolase B from a patient with hereditary fructose intolerance. (8299883)
1994
29
Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. (8162030)
1994
30
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. (8071980)
1994
31
Congenital fructose intolerance. New molecular aspects]. (7809888)
1994
32
Aldolase B and fructose intolerance. (8299892)
1994
33
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. (8096362)
1993
34
DNA diagnosis of fatal fructose intolerance from archival tissue. (8438046)
1993
35
Case report: heterogeneity of aldolase B in hereditary fructose intolerance. (1772121)
1991
36
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. (1928090)
1991
37
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. (1856829)
1991
38
Hereditary fructose intolerance. (2207353)
1990
39
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. (2336380)
1990
40
Molecular analysis of aldolase B genes in hereditary fructose intolerance. (1967768)
1990
41
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. (2203259)
1990
42
Determination of fructose metabolic pathways in normal and fructose-intolerant children: a 13C NMR study using [U-13C]fructose. (2371280)
1990
43
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. (3383242)
1988
44
Increased concentrations of HbAlab in hereditary fructose intolerance and galactosemia. (3587991)
1987
45
Fructose-induced hyperuricemia: observations in normal children and in patients with hereditary fructose intolerance and galactosemia. (1187240)
1975
46
Hereditary alterations of fructose metabolizing enzymes. Studies on essential fructosuria and on hereditary fructose intolerance. (4579756)
1972
47
Serum aldolase in Tay-Sachs disease and in fructose intolerance. (5129546)
1971
48
Essential fructosuria and hereditary fructose intolerance. (5782732)
1969
49
Fructose metabolism. IV. Enzyme deficiencies: essential fructosuria, fructose intolerance, and glycogen-storage disease. (4875257)
1968
50
An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. (5658593)
1968

Variations for Fructose Intolerance

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UniProtKB/Swiss-Prot genetic disease variations for Fructose Intolerance:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1ALDOBp.Cys135ArgVAR_000551
2ALDOBp.Ala150ProVAR_000553rs1800546
3ALDOBp.Ala175AspVAR_000554rs76917243
4ALDOBp.Leu257ProVAR_000555
5ALDOBp.Arg304TrpVAR_000556
6ALDOBp.Asn335LysVAR_000557
7ALDOBp.Ala338ValVAR_000558
8ALDOBp.Ile74ThrVAR_020822
9ALDOBp.Pro185ArgVAR_020824
10ALDOBp.Val222PheVAR_020826
11ALDOBp.Leu229ProVAR_020827
12ALDOBp.Arg304GlnVAR_020828rs145078268
13ALDOBp.Cys178ArgVAR_058211
14ALDOBp.Leu284ProVAR_058212

Clinvar genetic disease variations for Fructose Intolerance:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1ALDOBNG_012387.1: g.7841_14288deldeletionPathogenicGRCh37Chr 9, 104188775: 104195222
2ALDOBNM_000035.3(ALDOB): c.136A> T (p.Arg46Trp)single nucleotide variantPathogenicrs41281039GRCh37Chr 9, 104192225: 104192225
3ALDOBNM_000035.3(ALDOB): c.1027T> C (p.Tyr343His)single nucleotide variantPathogenicrs369586696GRCh37Chr 9, 104184159: 104184159
4ALDOBNM_000035.3(ALDOB): c.448G> C (p.Ala150Pro)single nucleotide variantPathogenicrs1800546GRCh37Chr 9, 104189856: 104189856
5ALDOBNM_000035.3(ALDOB): c.524C> A (p.Ala175Asp)single nucleotide variantPathogenicrs76917243GRCh37Chr 9, 104189780: 104189780
6ALDOBNM_000035.3(ALDOB): c.865_867delCTT (p.Leu289del)deletionPathogenicrs118204425GRCh37Chr 9, 104187257: 104187259
7ALDOBNM_000035.3(ALDOB): c.357_360delAAAC (p.Asn120Lysfs)deletionPathogenicrs387906225GRCh37Chr 9, 104190770: 104190773
8ALDOBNM_000035.3(ALDOB): c.720C> A (p.Cys240Ter)single nucleotide variantPathogenicrs118204426GRCh37Chr 9, 104187814: 104187814
9ALDOBNM_000035.3(ALDOB): c.1005C> G (p.Asn335Lys)single nucleotide variantPathogenicrs78340951GRCh37Chr 9, 104184181: 104184181
10ALDOBALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8indelPathogenic
11ALDOBNM_000035.3(ALDOB): c.10C> T (p.Arg4Ter)single nucleotide variantPathogenicrs118204428GRCh37Chr 9, 104193160: 104193160
12ALDOBNM_000035.3(ALDOB): c.178C> T (p.Arg60Ter)single nucleotide variantPathogenicrs118204429GRCh37Chr 9, 104192183: 104192183
13ALDOBALDOB, IVS6AS, G-A, -1single nucleotide variantPathogenic
14ALDOBNM_000035.3(ALDOB): c.547_552delCTGGTA (p.Leu183_Val184del)deletionPathogenicrs387906226GRCh37Chr 9, 104188909: 104188914
15ALDOBNM_000035.3(ALDOB): c.442T> C (p.Trp148Arg)single nucleotide variantPathogenicrs118204430GRCh37Chr 9, 104189862: 104189862

Expression for genes affiliated with Fructose Intolerance

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Search GEO for disease gene expression data for Fructose Intolerance.

Pathways for genes affiliated with Fructose Intolerance

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Pathways related to Fructose Intolerance according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3TALDO1, ALDOB
2
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.3TALDO1, ALDOB
3
Show member pathways
pentose phosphate pathway (non-oxidative branch)36
pentose phosphate pathway36
PRPP biosynthesis36
9.3TALDO1, ALDOB
4
Show member pathways
8.5TALDO1, ALDOB, SUOX

Compounds for genes affiliated with Fructose Intolerance

About this section
Sources:
24HMDB, 43Novoseek, 12DrugBank, 28IUPHAR
See all sources

Compounds related to Fructose Intolerance according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1D-Erythrose 4-phosphate249.6TALDO1, ALDOB
2D-Glyceraldehyde 3-phosphate249.6TALDO1, ALDOB
3fructose-1,6-bisphosphate439.6TALDO1, ALDOB
4fructose43 1210.5TALDO1, ALDOB
5mannitol43 1210.5ALDOB, TALDO1
6glyceraldehyde 3-phosphate439.4TALDO1, ALDOB
7pyruvate439.4TALDO1, ALDOB
8glucose439.3TALDO1, ALDOB
9hydrogen43 2410.1SUOX, TALDO1
10oxygen43 2410.0TALDO1, SUOX
11atp43 2810.0TALDO1, ALDOB
12lactate438.7SUOX, ALDOB, TALDO1

GO Terms for genes affiliated with Fructose Intolerance

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Biological processes related to Fructose Intolerance according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:00059759.3TALDO1, ALDOB
2small molecule metabolic processGO:00442818.2TALDO1, ALDOB, SUOX

Products for genes affiliated with Fructose Intolerance

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Sources for Fructose Intolerance

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet