Disorders in ketone body synthesis (Homo sapiens)

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1Connection to pathwayACAT1GlycosylationSterol biosynthesis HMGCLGlycolysisOXCT122Cytosol 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency3-Hydroxy-3- methylglutaryl-CoA synthase deficiencyMethylacetoacetyl- CoA thiolase deficiencyAcetoacetyl-CoACoenzym A3-hydroxybutyric acidTricarboxylicacid cycleBDH1Acetyl-CoAHMGCS2acetoacetateacetoneLeucineCoASHfatty acidsNAD+3-hydroxy-3-methylglutaryl-coenzyme AMitochondrial long chain fatty acid beta-oxidationH+NADHAcetyl-CoAH+Mitochondrial matrix Carbon DioxideLeucine, isoleucine and valine metabolismDiseaseCatalysisPathwayProteinMetaboliteConversionConnection to diseaseLegendMevalonate biosynthesisPyruvate metabolismFatty acid metabolismSCOT deficiency


Description

Ketone bodies, acetoacetate and 3-hydroxybutyric acid, are produced in times of hunger/starvation by the liver. Ketogenesis can be impeded by inborn errors of metabolism such as Methylacetoacetyl-CoA thiolase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

In this pathway ketogenesis is visualised and linked to the different diseases. Ketogenesis can derive from leucine metabolism and fatty acid beta-oxidation and happens in the mitochondria. The enzymes ACAT1, HMGCS2, HMGCL and BDH1 play an important role during this proces. This pathway is based on chapter 23 of the book of Blau et al. (ISBN 3642403360 (978-3642403361)), Figures 23.1 and 23.2.

For the ketolysis pathway see: WP5195

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Ontology Terms

 

Bibliography

  1. Morris, AMM; ''Inborn metabolic diseases''; ISBN: 978-3-642-15720-2, 2012
  2. Blau, Nenad, Duran, Marinus, Gibson, K. Michael, Dionisi-Vici, Carlos; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; 978-3-642-40337-8, 2014 DOI Scholia

History

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CompareRevisionActionTimeUserComment
128229view13:32, 29 January 2024EweitzStandardize case
128228view13:29, 29 January 2024EweitzStandardize case, trim node padding
128227view13:24, 29 January 2024EweitzSoften color, use standard font weight in disease nodes
128226view13:22, 29 January 2024EweitzUse standard pathway node shape
125326view22:17, 31 January 2023LarsgwAdd ISBN, DOI to references
122904view12:16, 31 May 2022DeSlUpdated description to include info from WP311
122903view12:12, 31 May 2022DeSlmerged content from WP311 into this PW
122517view12:48, 13 April 2022DeSlRemoved unneccessary element from legend
122516view12:47, 13 April 2022DeSlUpdate description
122515view12:45, 13 April 2022DeSlConnecrted unconnected line in legend to graphical line
122368view11:45, 24 March 2022SamDrabbefixed interaction
122360view10:43, 23 March 2022SamDrabbedata node change pyruvate metabolism
122359view10:31, 23 March 2022SamDrabbeadded glucosylation pathway
122358view10:26, 23 March 2022SamDrabbeadded mevalonate biosynthesis
122357view10:21, 23 March 2022SamDrabbeData Node HMGCL changed
122356view10:20, 23 March 2022SamDrabbedescription ACAT1 changed
122355view10:19, 23 March 2022SamDrabbeData Node ACAT1 changed
122354view10:01, 23 March 2022SamDrabbeModified description
122353view09:56, 23 March 2022SamDrabbeModified description
122246view12:27, 16 March 2022SamDrabbeadded sterol biosynthesis
122233view10:32, 16 March 2022SamDrabbeOntology Term : 'citric acid cycle pathway' added !
122229view10:26, 16 March 2022SamDrabbeOntology Term : 'fatty acid metabolic pathway' added !
122227view10:25, 16 March 2022SamDrabbepathways added
122223view10:02, 16 March 2022SamDrabbeDataNode change
122221view10:00, 16 March 2022SamDrabbechange BDH1 DataNode
122073view23:01, 9 March 2022DeSlremoved PMID:29630231 from GPML
122063view13:57, 9 March 2022SamDrabbeAcetoacetyl-CoA annotation updated
122061view13:56, 9 March 2022SamDrabbeAcetyl-CoA annotation updated
122051view12:56, 9 March 2022SamDrabbeconversion adjusted
122048view12:33, 9 March 2022SamDrabbeliterature
122003view09:20, 9 March 2022SamDrabbeliterature change
121807view15:30, 6 March 2022SamDrabbeLegend added
121800view14:09, 6 March 2022EgonwNot an conversion
121763view12:22, 3 March 2022DeSlMore small layout changes
121762view12:12, 3 March 2022DeSlMore layout and condensation of DataNodes
121761view12:09, 3 March 2022DeSlfixed title
121760view12:08, 3 March 2022DeSlCondensed PW layout
121759view12:06, 3 March 2022DeSlSmall layout changes (added one H+ DataNode)
121758view12:04, 3 March 2022DeSlConverted MIMconversion from metabolite to PW DataNode to arrows
121644view10:10, 23 February 2022SamDrabbeadjusted reference
121548view10:33, 21 February 2022SamDrabbeadded literature
121546view10:16, 21 February 2022AmauryPelzerChanged annotation (ACAT1)
121545view10:15, 21 February 2022SamDrabbechanged some line types
121542view10:11, 21 February 2022SamDrabbeOntology Term : 'CL:0000000' removed !
121541view10:11, 21 February 2022SamDrabbeOntology Term : 'native cell' added !
121539view10:10, 21 February 2022AmauryPelzerFixed an anchor point and added double directional arrows.
121538view10:08, 21 February 2022SamDrabbeOntology Term : 'Cell Type' added !
121530view08:41, 21 February 2022AmauryPelzerOntology Term : 'beta-ketothiolase deficiency' added !
121455view14:55, 17 February 2022AmauryPelzerChanged arrow types for conversions with multiple substrates/products
121454view14:52, 17 February 2022AmauryPelzerReverted to version '14:46, 17 February 2022' by AmauryPelzer

External references

DataNodes

View all...
NameTypeDatabase referenceComment
3-hydroxy-3-methylglutaryl-coenzyme AMetaboliteCHEBI:11814 (ChEBI) [PMID:14769483]
3-hydroxybutyric acidMetabolite20067 (ChEBI) aka 3HB [PMID:14769483]
ACAT1ProteinP24752 (Uniprot-TrEMBL) In the book by Blau et al. referred to as MAT ; [PMID:14769483]
Acetoacetyl-CoAMetaboliteCHEBI:15345 (ChEBI) [PMID:14769483]
Acetyl-CoAMetaboliteCHEBI:57288 (ChEBI)
BDH1ProteinQ02338 (Uniprot-TrEMBL) In the book by Blau et al. they use the abbriviation 3HBD; [PMID:14769483]
Carbon DioxideMetaboliteCHEBI:16526 (ChEBI)
CoASHMetaboliteCHEBI:15346 (ChEBI)
Coenzym AMetaboliteCHEBI:15346 (ChEBI)
GlycolysisPathwayWP534 (WikiPathways) [PMID:14769483]
GlycosylationPathwayWP4521 (WikiPathways)
H+MetaboliteCHEBI:15378 (ChEBI)
HMGCLProteinH0Y2L7 (Uniprot-TrEMBL)
HMGCS2ProteinP54868 (Uniprot-TrEMBL) [PMID:14769483]
Leucine, isoleucine and valine metabolismPathwayWP4686 (WikiPathways)
LeucineMetaboliteCHEBI:15603 (ChEBI)
Mevalonate biosynthesisPathwayWP4190 (WikiPathways)
Mitochondrial long chain fatty acid beta-oxidationPathwayWP368 (WikiPathways) [PMID:14769483]
NAD+MetaboliteCHEBI:15846 (ChEBI)
NADHMetaboliteCHEBI:16908 (ChEBI)
OXCT1ProteinP55809 (Uniprot-TrEMBL) [PMID:14769483]
Sterol biosynthesis PathwayWP4718 (WikiPathways) [PMID:14769483]
Tricarboxylic acid cyclePathwayWP78 (WikiPathways)
acetoacetateMetaboliteCHEBI:13705 (ChEBI) [PMID:14769483]
acetoneMetaboliteCHEBI:15347 (ChEBI)
fatty acidsMetaboliteCHEBI:35366 (ChEBI)

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
3-hydroxy-3-methylglutaryl-coenzyme Amim-conversion24405 (Rhea)
Acetoacetyl-CoA3-hydroxy-3-methylglutaryl-coenzyme Amim-conversion10189 (Rhea) [PMID:14769483]
Acetoacetyl-CoAacetoacetatemim-conversion25482 (Rhea) [PMID:14769483]
Acetyl-CoAAcetoacetyl-CoAmim-conversion21039 (Rhea)
acetoacetate3-hydroxybutyric acidmim-conversion20524 (Rhea)
acetoacetateacetonemim-conversion19730 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5175"
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