Disorders in ketolysis (Homo sapiens)

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12CytosolCholesterol synthesisMitochondrial matrixAcetyl-CoA acetyltransferase3-hydroxybutyric acidHMG-CoABDH1Acetyl-CoAsuccinyl-CoASCOT1Acetyl-CoA acetyltransferaseacetoacetatesuccinateHSCoAAcetoacetyl-CoAHMCS1Acetyl-CoAAcetoacetyl-CoA


Description

Disorders of Ketolysis

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Ontology Terms

 

Bibliography

  1. Blau, Nenad, Duran, Marinus, Gibson, K. Michael, Dionisi-Vici, Carlos; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; ISBN: 978-3-642-40337-8, 2014
  2. Fukao T, Song XQ, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T, Kondo N; ''Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases.''; Pediatr Res, 1997 PubMed Europe PMC Scholia
  3. AMM, Morris; ''Inborn metabolic diseases''; ISBN: 978-3-642-15720-2, 2012

History

View all...
CompareRevisionActionTimeUserComment
128225view13:20, 29 January 2024EweitzSoften disease color, standardize case
122514view12:44, 13 April 2022DeSl
122434view11:36, 5 April 2022EweitzModified title
121868view21:26, 7 March 2022DeSlChanged colour in legend for disease connection
121867view21:26, 7 March 2022DeSlConverted all GeneProducts to Proteins (UniProt IDs)
121866view21:24, 7 March 2022DeSlUpdated HMDB IDs to new ID structure
121865view21:23, 7 March 2022DeSlRemoved links to OMIM in literature section
121864view21:21, 7 March 2022DeSlMoved cytosol
121863view21:18, 7 March 2022DeSlOntology Term : 'succinyl-CoA:3-oxoacid transferase deficiency pathway' added !
121862view21:17, 7 March 2022DeSlOntology Term : 'beta-ketothiolase deficiency' added !
121861view21:15, 7 March 2022DeSlOntology Term : 'cholesterol biosynthetic pathway' added !
121860view21:15, 7 March 2022DeSlOntology Term : 'classic metabolic pathway' added !
121859view21:15, 7 March 2022DeSlOntology Term : 'ketone bodies degradation pathway' added !
121858view21:13, 7 March 2022DeSlAdded legend, updated description
121857view21:06, 7 March 2022DeSlAdded reviewed UniProt ID for BDH1
121856view21:02, 7 March 2022DeSlConnected one disorder; connected formation of two Acetyl CoAs in reaction catalyzed by MAT
121855view20:57, 7 March 2022DeSllayout, added PW node IDs
121649view11:16, 23 February 2022SamDrabbeAdded diseases linked with Ketolysis
121643view10:08, 23 February 2022SamDrabbeadded literature
121641view10:04, 23 February 2022SamDrabbeadded Rhea annotation
121572view14:26, 21 February 2022SamDrabbeAdjusted some lines
121569view14:06, 21 February 2022SamDrabbeAdded extra pathway
121370view13:50, 16 February 2022SamDrabbeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
3-hydroxybutyric acidMetabolite20067 (ChEBI)
Acetoacetyl-CoAMetaboliteHMDB01484 (HMDB)
Acetyl-CoA acetyltransferaseProteinP24752 (Uniprot-SwissProt) In the book by Blau et al. they used the name MAT
Acetyl-CoA acetyltransferaseGeneProductQ9BWD1 (Uniprot-TrEMBL) In the book by Blau et al. is protein is referred to as CT
Acetyl-CoAMetaboliteHMDB01206 (HMDB)
BDH1GeneProductC9JM78 (Uniprot-TrEMBL)
HMCS1GeneProductQ01581 (Uniprot-TrEMBL)
HMG-CoAMetaboliteCHEBI:15467 (ChEBI) referred to as β-Hydroxy-β-methylglutaryl-CoA in the book by Blau et al.
HSCoAMetaboliteCHEBI:15346 (ChEBI)
SCOT1GeneProductP55809 (Uniprot-TrEMBL)
acetoacetateMetaboliteCHEBI:13705 (ChEBI)
succinateMetaboliteCHEBI:30031 (ChEBI)
succinyl-CoAMetaboliteCHEBI:15380 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
Acetoacetyl-CoAAcetyl-CoAmim-conversion21039 (Rhea)
Acetoacetyl-CoAHMG-CoAmim-conversion24406 (Rhea)
Acetyl-CoAAcetoacetyl-CoAmim-conversion21037 (Rhea)
acetoacetate3-hydroxybutyric acidmim-conversion20524 (Rhea)
acetoacetateAcetoacetyl-CoAmim-conversion25483 (Rhea)
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