Disorders in ketolysis (Homo sapiens)

From WikiPathways

Description

Quality Tags

Ontology Terms

Bibliography

1. 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
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''; ISBN: 978-3-642-40337-8, 2014
3. AMM, Morris; ''Inborn metabolic diseases''; ISBN: 978-3-642-15720-2, 2012

History

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Compare	Revision	Action	Time	User	Comment
	141354	view	03:11, 11 November 2025	Eweitz	Tailor node height, refine node alignment
	141353	view	03:10, 11 November 2025	Eweitz	Refine legend
	141352	view	03:09, 11 November 2025	Eweitz	Economize layout
	137693	view	05:18, 7 March 2025	Egonw	Modified description
	128225	view	13:20, 29 January 2024	Eweitz	Soften disease color, standardize case
	122514	view	12:44, 13 April 2022	DeSl
	122434	view	11:36, 5 April 2022	Eweitz	Modified title
	121868	view	21:26, 7 March 2022	DeSl	Changed colour in legend for disease connection
	121867	view	21:26, 7 March 2022	DeSl	Converted all GeneProducts to Proteins (UniProt IDs)
	121866	view	21:24, 7 March 2022	DeSl	Updated HMDB IDs to new ID structure
	121865	view	21:23, 7 March 2022	DeSl	Removed links to OMIM in literature section
	121864	view	21:21, 7 March 2022	DeSl	Moved cytosol
	121863	view	21:18, 7 March 2022	DeSl	Ontology Term : 'succinyl-CoA:3-oxoacid transferase deficiency pathway' added !
	121862	view	21:17, 7 March 2022	DeSl	Ontology Term : 'beta-ketothiolase deficiency' added !
	121861	view	21:15, 7 March 2022	DeSl	Ontology Term : 'cholesterol biosynthetic pathway' added !
	121860	view	21:15, 7 March 2022	DeSl	Ontology Term : 'classic metabolic pathway' added !
	121859	view	21:15, 7 March 2022	DeSl	Ontology Term : 'ketone bodies degradation pathway' added !
	121858	view	21:13, 7 March 2022	DeSl	Added legend, updated description
	121857	view	21:06, 7 March 2022	DeSl	Added reviewed UniProt ID for BDH1
	121856	view	21:02, 7 March 2022	DeSl	Connected one disorder; connected formation of two Acetyl CoAs in reaction catalyzed by MAT
	121855	view	20:57, 7 March 2022	DeSl	layout, added PW node IDs
	121649	view	11:16, 23 February 2022	SamDrabbe	Added diseases linked with Ketolysis
	121643	view	10:08, 23 February 2022	SamDrabbe	added literature
	121641	view	10:04, 23 February 2022	SamDrabbe	added Rhea annotation
	121572	view	14:26, 21 February 2022	SamDrabbe	Adjusted some lines
	121569	view	14:06, 21 February 2022	SamDrabbe	Added extra pathway
	121370	view	13:50, 16 February 2022	SamDrabbe	New pathway

External references

DataNodes

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Name	Type	Database reference	Comment
3-hydroxybutyric acid	Metabolite	20067 (ChEBI)
Acetoacetyl-CoA	Metabolite	HMDB01484 (HMDB)
Acetyl-CoA acetyltransferase	Protein	P24752 (Uniprot-SwissProt)	In the book by Blau et al. they used the name MAT
Acetyl-CoA acetyltransferase	GeneProduct	Q9BWD1 (Uniprot-TrEMBL)	In the book by Blau et al. is protein is referred to as CT
Acetyl-CoA	Metabolite	HMDB01206 (HMDB)
BDH1	GeneProduct	C9JM78 (Uniprot-TrEMBL)
HMCS1	GeneProduct	Q01581 (Uniprot-TrEMBL)
HMG-CoA	Metabolite	CHEBI:15467 (ChEBI)	referred to as β-Hydroxy-β-methylglutaryl-CoA in the book by Blau et al.
HSCoA	Metabolite	CHEBI:15346 (ChEBI)
SCOT1	GeneProduct	P55809 (Uniprot-TrEMBL)
acetoacetate	Metabolite	CHEBI:13705 (ChEBI)
succinate	Metabolite	CHEBI:30031 (ChEBI)
succinyl-CoA	Metabolite	CHEBI:15380 (ChEBI)

Annotated Interactions

Source	Target	Type	Database reference	Comment
Acetoacetyl-CoA	Acetyl-CoA	mim-conversion	21039 (Rhea)
Acetoacetyl-CoA	HMG-CoA	mim-conversion	24406 (Rhea)
Acetyl-CoA	Acetoacetyl-CoA	mim-conversion	21037 (Rhea)
acetoacetate	3-hydroxybutyric acid	mim-conversion	20524 (Rhea)
acetoacetate	Acetoacetyl-CoA	mim-conversion	25483 (Rhea)