Disorders of fructose metabolism (Homo sapiens)

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4Fanconi-Bickel syndrome10Enterocytes(liver) cellSLC2A2SorbitolALDH1A18PGM1Glc-1-PGLYCTKPFKL5Glyceraldehyde-3-PGlyceraldehydeSucroseGlucoseGPI6G6PCFrc-1,6-P2SORDFBP1SLC5A1Frc-6-PGlycogenGlycolosis and gluconeogenesisFructoseTPI12-P-GlyceratepyruvateD-glycerateFrc-1-PKHK9ALDOB1Dihydroxyacetone-PFructoseSorbitolGlucoseGlc-6-PGlcGlcGlc 6-PerIntestinal glucose-galactosemalabsorption2Essential fructosuria11Hereditary fructoseintolerance12Fructose-1,6-biphosphatasedeficiencyGlycerate kinasedeficiency133, 7


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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
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

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NameTypeDatabase referenceComment
2-P-GlycerateMetaboliteCHEBI:17835 (ChEBI)
ALDH1A1GeneProductENSG00000165092 (Ensembl)
ALDOBGeneProductENSG00000136872 (Ensembl)
D-glycerateMetaboliteQ27102017 (Wikidata)
Dihydroxyacetone-PMetaboliteHMDB01473 (HMDB)
FBP1GeneProductENSG00000165140 (Ensembl)
Frc-1,6-P2MetaboliteHMDB01058 (HMDB)
Frc-1-PMetaboliteHMDB01076 (HMDB)
Frc-6-PMetaboliteHMDB00124 (HMDB)
FructoseMetaboliteCHEBI:28645 (ChEBI)
G6PCGeneProductENSG00000131482 (Ensembl)
GLYCTKGeneProductENSG00000168237 (Ensembl)
GPIGeneProductENSG00000105220 (Ensembl)
Glc 6-PMetaboliteCHEBI:4170 (ChEBI)
Glc-1-PMetaboliteCHEBI:16077 (ChEBI)
Glc-6-PMetaboliteHMDB01401 (HMDB)
GlcMetaboliteCHEBI:17234 (ChEBI)
GlucoseMetaboliteCHEBI:17234 (ChEBI)
Glyceraldehyde-3-PMetaboliteCHEBI:29052 (ChEBI)
GlyceraldehydeMetaboliteHMDB01051 (HMDB)
GlycogenMetaboliteCHEBI:28087 (ChEBI)
Glycolosis and gluconeogenesisPathwayWP534 (WikiPathways)
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

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SourceTargetTypeDatabase referenceComment
Dihydroxyacetone-PGlyceraldehyde-3-Pmim-conversionRHEA:18585 (Rhea)
Dihydroxyacetone-Pmim-conversionRHEA:30851 (Rhea)
Frc-1,6-P2Frc-6-Pmim-conversionRHEA:11064 (Rhea)
Frc-1,6-P2mim-conversionRHEA:14729 (Rhea)
Frc-1-Pmim-conversionRHEA:30851 (Rhea)
Frc-6-PFrc-1,6-P2mim-conversionRHEA:16109 (Rhea)
Frc-6-PGlc-6-Pmim-conversionRHEA:11816 (Rhea)
FructoseFrc-1-Pmim-conversionRHEA:18145 (Rhea)
Glc 6-PGlcmim-conversionRHEA:16689 (Rhea)
Glc-1-PGlc-6-Pmim-conversionRHEA:23536 (Rhea)
Glyceraldehyde-3-PArrowRHEA:14729 (Rhea)
Glyceraldehydemim-conversionRHEA:30783 (Rhea)
SorbitolFructosemim-conversionR-HSA-5652195.5 (Reactome)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5178"
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