Disorders of fructose metabolism (Homo sapiens)

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Legend83PathwayOccurs in erythrocytesMetabolitealternative conversion or conversionin alternative entryGeneMetabolite in alternativepathway for second entryinto main pathwayFanconi-Bickel syndromeconversionEnterocytesLiver cellSorbitolSLC2A2ALDH1A14PGM1Glc-1-PGLYCTKPFKL2Glyceraldehyde-3-PGlyceraldehydeSucroseGlucoseGPI7G6PCFrc-1,6-P2SORDFBP1SLC5A1Frc-6-PGlycogenGlycolosis and gluconeogenesisFructoseTPI12-P-GlyceratepyruvateD-glycerateFrc-1-PKHK1ALDOB5Dihydroxyacetone-PFructoseSorbitolGlucoseGlc-6-PGlcGlcGlc 6-PERIntestinal glucose-galactosemalabsorptionKetohexokinasedeficiencyAldolase BdeficiencyFructose-1,6-biphosphatasedeficiencyGlycerate kinasedeficiencyHK16Phosphoglucomutase 1deficiencyGlucose-6-phosphatasedeficiencyDiseaseCatalysisconnection todiseaseGlucose phosphate isomerasedeficiencySorbitol dehydrogenase deficiencywith peripheral neuropathyIn fibroblastsTriosephosphate isomerasedeficiencyIn erythrocytesHexokinase deficiencyIn erythrocytesNEDVIBAHMSNRIn Schwann cellsRetinitis pigmentosa 79In erythrocytes and saliva


Description

Fructose is converted into fructose-1-phosphate, this reaction is facilitated by fructokinase (also called ketohexokinase)(encoded by KHK). Connected to this reaction is the metabolic disease "essential fructosuria" which causes a deficiency in fructokinase. After this fructose-1-phosphate is converted into glyceraldehyde and dihydroxyacetone-phosphate, this is facilitated by aldolase B (encoded by ALDOB). connected to this reaction is the metabolic disease "hereditary fructose intolerance", which is the result of the absence of aldolase B. The glyceraldehyde produced from this reaction will be converted into D-glycerate through the activity of Aldehyde dehydrogenase 1 family, member A1 or ALDH1A1 (encoded by the ALDH1A1 gene). The D-glycerate will be converted (according to the book) into 2-Phosphoglyceric acid through the activity of Glycerate kinase (encoded by GLYCTK), connected to this reaction is the metabolic disease "glycerate kinase deficiency" which results in the accumulation of D-glycerate. The resulting 2-phosphoglyceric acid then goes through a series of reactions resulting in pyruvate.

Another entry into this pathway is through the conversion of glucose-6-phosphate into fructose-6-phosphate through glucose-6-phosphate isomerase (encoded by GPI). The fructose-6-phosphate can be converted into fructose-1,6-biphosphate through phosphofructokinase (encoded by PFKL). Fructose-1,6-biphosphate can be converted into fructose-6-phosphate by fructose-1,6-biphosphatase, connected to this reaction is the metabolic disease "Fructose-1,6-biphosphatase deficiency". When going further, the fructose-1,6-biphosphate is converted into dihydroxyacetone-phosphate and glyceraldehyde-3-phosphate through the activity of aldolase B, this reaction is also affected by hereditary fructose intolerance. The glyceraldehyde-3-phosphate is then eventually turned into pyruvate through a series of reactions. The dihydroxyacetone-phosphate resulting from the aldolase B involved reactions can be converted into glyceraldehyde-3-phosphate through the activity of triose-phosphate isomerase (encoded by TPI1).

This pathway is based on the fructose metabolism pathway (Chapter 18, Figure 18.5) in the book Physicians Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases (ed. 4) by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi.(ISBN 3642403360 (978-3642403361))

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Bibliography

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  1. Asipu A, Hayward BE, O'Reilly J, Bonthron DT; ''Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.''; Diabetes, 2003 PubMed Europe PMC Scholia
  2. Sciacovelli M, Gaude E, Hilvo M, Frezza C; ''The metabolic alterations of cancer cells.''; Methods Enzymol, 2014 PubMed Europe PMC Scholia
  3. Neidhardt, F.C., Kushner, S.R.; ''Escherichia coli''; https://doi.org/10.1016/B978-0-12-809633-8.06393-7, 2001 DOI Scholia
  4. Yoval-Sánchez B, Pardo JP, Rodríguez-Zavala JS; ''New insights into the half-of-the-sites reactivity of human aldehyde dehydrogenase 1A1.''; Proteins, 2013 PubMed Europe PMC Scholia
  5. Gamblin SJ, Davies GJ, Grimes JM, Jackson RM, Littlechild JA, Watson HC; ''Activity and specificity of human aldolases.''; J Mol Biol, 1991 PubMed Europe PMC Scholia
  6. Sass JO, Fischer K, Wang R, Christensen E, Scholl-Bürgi S, Chang R, Kapelari K, Walter M; ''D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).''; Hum Mutat, 2010 PubMed Europe PMC Scholia
  7. Mojzikova R, Koralkova P, Holub D, Saxova Z, Pospisilova D, Prochazkova D, Dzubak P, Horvathova M, Divoky V; ''Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.''; Blood Cells Mol Dis, 2018 PubMed Europe PMC Scholia
  8. Blau N, Duran M, Gibson KM, Dionisi-Vici C; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Chapter 18''; ISBN 978-3-642-40337-8, 2014 DOI Scholia

History

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CompareRevisionActionTimeUserComment
134494view05:28, 22 July 2024EgonwRemoved a template comment
128233view13:44, 29 January 2024EweitzSoften color, use standard line thickness in disease nodes; use standard shape in pathway nodes
127619view20:19, 8 November 2023LarsgwFix reference bp:DB
125327view22:18, 31 January 2023LarsgwAdd DOI to reference
124895view14:47, 29 December 2022EgonwManually added the DOI identifier as identifier too
122450view19:29, 7 April 2022EnzoChiaradiaimplemented extra disease list into pathway
122224view10:11, 16 March 2022EnzoChiaradiachanged identifier for D-glycerate from wikidata to ChEBI
122222view10:01, 16 March 2022EnzoChiaradiachanged interaction from arrow to mim-conversion
122055view13:27, 9 March 2022EnzoChiaradiaOntology Term : 'congenital disorder of glycosylation' added !
122054view13:23, 9 March 2022EnzoChiaradiaOntology Term : 'retinitis pigmentosa' added !
122047view12:20, 9 March 2022EnzoChiaradiafixed interactions
122008view09:38, 9 March 2022EnzoChiaradiaadded a legend
121981view20:58, 8 March 2022EnzoChiaradiaadded diseases for HK1
121980view20:42, 8 March 2022EnzoChiaradiaadded hexokinase deficiency to the diseases
121977view18:27, 8 March 2022EnzoChiaradiaadded the disease triosephosphate isomerase deficiency
121974view18:21, 8 March 2022EnzoChiaradiaadded the disease sorbitol dehydrogenase deficiency
121973view18:15, 8 March 2022EnzoChiaradiaadded diseases connected to genes in pathway
121971view17:33, 8 March 2022EnzoChiaradiaModified description
121970view17:32, 8 March 2022EnzoChiaradiachanged the reference to the book this pathway is based on
121969view17:26, 8 March 2022EnzoChiaradiachanged the name of hereditary fructose intolerance to be more accurate
121968view17:25, 8 March 2022EnzoChiaradiachanged the name of essential fructosuria to be more accurate
121965view17:10, 8 March 2022EnzoChiaradiaModified description
121963view17:08, 8 March 2022EnzoChiaradiamade pathway box bigger for readability and changed identifier for Glc-6-P and Glyceraldehyde from HMDB to ChEBI
121962view17:02, 8 March 2022EnzoChiaradiamade disease boxes bigger for readability and changed Frc-6-P identifier from HMDB to ChEBI
121961view16:57, 8 March 2022EnzoChiaradiachanged identifier from HMDB to ChEBI for dihydroxyacetone-P, Frc-1,6-P2, and Frc-1-P
121950view16:41, 8 March 2022EnzoChiaradiaOntology Term : 'carbohydrate metabolic pathway' added !
121948view16:34, 8 March 2022EnzoChiaradiaModified description
121947view16:34, 8 March 2022EnzoChiaradiaModified description
121690view08:01, 25 February 2022EgonwRemoved the RHEA prefix
121565view13:29, 21 February 2022SamDrabbeAdded Rhea references and corrected some lines
121449view14:42, 17 February 2022EnzoChiaradiaadded reaction identifiers for fructose to fructose-6-phosphate
121445view14:06, 17 February 2022EnzoChiaradiaModified description
121429view12:25, 17 February 2022EnzoChiaradiaReverted to version '12:02, 17 February 2022' by EnzoChiaradia
121428view12:24, 17 February 2022EnzoChiaradiaModified description
121426view12:02, 17 February 2022EnzoChiaradiaModified description
121423view11:35, 17 February 2022EnzoChiaradiadiseases were formatted as datanodes, now they are labels
121418view11:09, 17 February 2022EnzoChiaradiaOntology Term : 'essential fructosuria' added !
121417view11:09, 17 February 2022EnzoChiaradiaOntology Term : 'hereditary fructose intolerance syndrome' added !
121416view11:08, 17 February 2022EnzoChiaradiaOntology Term : 'D-glyceric aciduria' added !
121415view11:08, 17 February 2022EnzoChiaradiaOntology Term : 'fructose-1,6-bisphosphatase deficiency' added !
121414view11:06, 17 February 2022EnzoChiaradiaOntology Term : 'inborn error of fructose metabolism pathway' added !
121410view10:36, 17 February 2022EnzoChiaradiaadded comment to the D-glycerate -> 2-P-Glycerate reaction
121183view15:02, 10 February 2022EnzoChiaradiafurther expansion of pathway
121167view12:16, 10 February 2022EnzoChiaradiaadded interaction references as well as enzymes
121151view08:26, 10 February 2022EnzoChiaradiaNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
2-P-GlycerateMetaboliteCHEBI:17835 (ChEBI)
ALDH1A1GeneProductENSG00000165092 (Ensembl)
ALDOBGeneProductENSG00000136872 (Ensembl)
D-glycerateMetaboliteCHEBI:16659 (ChEBI)
Dihydroxyacetone-PMetaboliteCHEBI:16108 (ChEBI)
FBP1GeneProductENSG00000165140 (Ensembl)
Frc-1,6-P2MetaboliteCHEBI:32966 (ChEBI)
Frc-1-PMetaboliteCHEBI:138881 (ChEBI)
Frc-6-PMetaboliteCHEBI:57634 (ChEBI)
FructoseMetaboliteCHEBI:28645 (ChEBI)
G6PCGeneProductENSG00000131482 (Ensembl)
GLYCTKGeneProductENSG00000168237 (Ensembl)
GPIGeneProductENSG00000105220 (Ensembl)
Glc 6-PMetaboliteCHEBI:4170 (ChEBI)
Glc-1-PMetaboliteCHEBI:16077 (ChEBI)
Glc-6-PMetaboliteCHEBI:58225 (ChEBI)
GlcMetaboliteCHEBI:17234 (ChEBI)
GlucoseMetaboliteCHEBI:17234 (ChEBI)
Glyceraldehyde-3-PMetaboliteCHEBI:29052 (ChEBI)
GlyceraldehydeMetaboliteCHEBI:17378 (ChEBI)
GlycogenMetaboliteCHEBI:28087 (ChEBI)
Glycolosis and gluconeogenesisPathwayWP534 (WikiPathways)
HK1GeneProductENSG00000156515 (Ensembl)
KHKGeneProductENSG00000138030 (Ensembl)
PFKLGeneProductENSG00000141959 (Ensembl)
PGM1GeneProductENSG00000079739 (Ensembl)
SLC2A2GeneProductENSG00000163581 (Ensembl)
SLC5A1GeneProductENSG00000100170 (Ensembl)
SORDGeneProductENSG00000140263 (Ensembl)
SorbitolMetaboliteCHEBI:30911 (ChEBI)
SucroseMetaboliteCHEBI:17992 (ChEBI)
TPI1GeneProductENSG00000111669 (Ensembl)
pyruvateMetaboliteCHEBI:15361 (ChEBI)

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
D-glycerate2-P-Glyceratemim-conversion27378 (Rhea) this is the reaction as it is in the referred book. This reaction should not be possible in humans according to databases. However, it is possible in E.coli K12 bacteria which are part of the human intestinal flora.
Dihydroxyacetone-PGlyceraldehyde-3-Pmim-conversion18585 (Rhea)
Dihydroxyacetone-Pmim-conversion30851 (Rhea)
Frc-1,6-P2Frc-6-Pmim-conversion11064 (Rhea)
Frc-1,6-P2mim-conversion14729 (Rhea)
Frc-1-Pmim-conversion30851 (Rhea)
Frc-6-PFrc-1,6-P2mim-conversion16109 (Rhea)
Frc-6-PGlc-6-Pmim-conversion11816 (Rhea)
FructoseFrc-1-Pmim-conversion18145 (Rhea)
Fructosemim-conversion16125 (Rhea)
Glc 6-PGlcmim-conversion16689 (Rhea)
Glc-1-PGlc-6-Pmim-conversion23536 (Rhea)
Glyceraldehyde-3-Pmim-conversion14729 (Rhea)
Glyceraldehydemim-conversion30783 (Rhea)
SorbitolFructosemim-conversionR-HSA-5652195.5 (Reactome)
SucroseFructosemim-conversion33796 (Rhea)
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