Leucine, isoleucine and valine metabolism (Homo sapiens)

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2BCAA aminotransferase deficencyBCKDHMethacrylic acid conjugatesE1 (alpha)BiotinTPPE2 (aka DBT)3-Methylcrotonyl-CoA3-HydroxybutyrateHydratase12-OxoisovalerateMCC alpha3IsobutyrylcarnitineIVDMethylmalonate3-Hydroxy-3-methylglutaryl-CoAIsoleucine3-HydroxyisobutyrateMethylcrotonylglycinuriaMalonic acidIsovaleric acidemiaAminotransferaseMaple syrup urine diseaseMalonyl-CoA decarboxylaseMethylglutaconic aciduria type IVL-ValineACSF3Isobutyrylglycine2-Hydroxyisovalerate3-Hydroxy-3-methylglutaric aciduriaS-2-carboxypropylcysteineBCAA aminotransferase deficencyMelonate/Methylmalonate2-Methyl-3-hydroxy-butyryl-CoA dehydrogenase deficiencyMethylmalonyl-CoA2-Methylbutyryl-glycinuria3-HydroxyisobutyrylcarnitineMaple syrup urine diseaseAcetoacetateAlpha-methyl-acetoacetic aciduriaAminotransferase2-Methylaceto-acetyl-CoAAminotransferase2-Methzl-3-hydroxy-butyryl-CoAValineTiglyl-CoAL-Isoleucine2-Methylbulyryl-CoA2-Hydroxyisovalerate2-Oxo-3-methylvalerateL-LeucineAcetyl-CoA2-OxoisocaproateMHBDS-2-carboxypropylcysteamineHydrataseHMG-CoA lyaseMBDMalonyl-CoABeta-ketothiolase2-OxoisocaproateE3 (aka DLD)Isovaleryl-CoABCAA aminotransferase deficencyMaple syrup urine diseaseDeacylaseHydrataseIBDMethacrylyl-CoAIsobutyryl-CoA2-Oxo-isovalerateSuccinyl-CoAPropionyl-CoAMethylmalonate semialdehyde3-Hydroxyisobutyrate3-Hydroxyiso-butyryl-CoAPCCDHDHMutase3-Hydroxyisobutyryl-CoAdecylase deficencyIsobutyryl-CoAdehydrogensae deficency3-Hydroxyisobutyratedehydrogenase deficiencyMethylmalonate semialdehyde dehydrogenase deficiencyPropionic acidemiaMethylmalonic acidemiaCombined MMA and MAMalonic aciduria2-Hydroxyisocaproate3-HydroxyisovalerateLeucineIsovalerylglycineIsovaleryglucuronideIsovaleric acid4-Hydroxyisovaleric acidIsovalerylcarnitine3-Hydroxyisovalerate3-MethylcrotonylglycineC5-Hydroxyacylcyarnitine3-Methylglutaconate3-Methylglutarylcarnitine3-HydroxyisovalerateC5-Hydroxyacylcarnitine3-Methylglutarate3-Methylglutaconate3-Hydroxyisovalerate3-MethylglutarateC5-Hydroxyacylcarnitine3-Hydroxy-3-methylglutarate3-Methylcrotonylglycine3-Hydroxyhexanoyl-carnitineKetone BodiesMalonic acidEthylmalonic acidMethylmalonic acidMalonylcarnitine2-Oxo-3-methylvalerate2-Methylbutyrylcarnitine2-Hyroxy-methylvalerate2-Methylbutyrylglycine2-Ethylhydracrylic acidTiglylglycineTiglylgycineTiglylglycine2-Methylacetoacetic acid2-Methyl-3-hydroxybutyrate2-Methyl-3-hydroxybutyrateTiglylcarnitineTiglycarnitine2-Methyl-3-hydroxybutyryl-carnitine2-Methyl-3-hydroxy-butyrylcarnitine2-Hydroxyisovalerate3-Hydroxyisobutyrylcarnitine3-Aminoisobutyric acid3-Hydroxyisobutyrate3-Hydroxypropionic acidEthylmalonic acidBeta-alanine3-HydroxypropionatePropionylglycineTiglylglycinePropionylcarnitineR,S-MethylcitrateR,S-Methylcitrate3-HydroxypropionatePropionylcarnitineMethylmalonylcarnitineMethylmalonic acidMalonylcarnitineE1 (beta)TPPBCKDHE2 (aka DBT)E3 (aka DLD)E1 (alpha)TPPE1 (beta)TPPBCKDHE2 (aka DBT)E3 (aka DLD)E1 (alpha)TPPE1 (beta)TPP3-Methyl-glutaconyl-CoAMCC alpha3


Description

This pathway shows disorders related to leucine, isoleusine and valine metabolism. Disorders resulting from an enzyme defect are highlighted in pink. This pathway was inspired by Chapter 7 of the book of Blau (ISBN 3642403360 (978-3642403361)).

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Quality Tags

Ontology Terms

 

Bibliography

  1. Blau N, Duran M, Gibson KM, Dionisi-Vici, C; ''Physician's Guidee to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer ISBN 3642403360, 2014
  2. Chu CH, Cheng D; ''Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC).''; Protein Expr Purif, 2007 PubMed Europe PMC Scholia
  3. Agnihotri G, Liu HW; ''Enoyl-CoA hydratase. reaction, mechanism, and inhibition.''; Bioorg Med Chem, 2003 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128283view01:25, 30 January 2024EweitzSoften disease color, use standard font weight
122622view08:44, 22 April 2022DeSlAnnotated most side metabolites/biomarkers
122618view08:00, 22 April 2022DeSlAnnotated righthand side fully
122617view07:42, 22 April 2022DeSlAnnotated most of righthand side main reactions
122615view15:30, 21 April 2022DeSlAnnotated all remaining proteins
122614view15:23, 21 April 2022DeSlFinished annotating middle section
122613view15:00, 21 April 2022DeSlAdded three additional subtypes for Maple syrup urine disease
122612view13:40, 21 April 2022DeSlMore layout updates
122611view13:33, 21 April 2022DeSlFixing layout, connectiond to disorders, replacing complexes with groups for Metabolites
122610view13:11, 21 April 2022DeSlStarting to annotate middle section
122605view09:28, 21 April 2022DeSlUpdate description
122059view13:37, 9 March 2022SamDrabbeketone body synthesis and ketolysis pathway added
119122view08:55, 18 June 2021FinterlyAdded ISBN for book citation
117776view13:59, 22 May 2021EweitzModified title
108034view14:58, 25 November 2019L DupuisConnected unconnected line
106457view10:09, 30 August 2019DeSlAdded last biomarker IDs on left.
106456view10:08, 30 August 2019DeSlAdded IDs for biomarkers on left hand side of PW.
106379view15:18, 23 August 2019DeSlAdded biotin (needed for MCC functioning).
106378view15:15, 23 August 2019DeSlFinished annotating main metabolites left hand side.
106377view14:31, 23 August 2019DeSlAdded more metabolite IDs for starting compounds
106376view14:27, 23 August 2019DeSlAdded subunits for BCKDH complex, started adding metabolite IDs + rhea interaction IDs.
105884view07:26, 16 August 2019AkutmonAdded Protein Identifiers
105883view07:11, 16 August 2019AkutmonAdded Protein identifiers
105739view11:13, 15 August 2019AkutmonUpdated Metabolic Groups
105738view10:07, 15 August 2019AkutmonAdded Metabolite Groups
105737view09:41, 15 August 2019AkutmonAdded Metabolite Groups
105736view09:04, 15 August 2019AkutmonAdded Metabolite Groups
105735view07:59, 15 August 2019AkutmonAdded Metabolite Groups
105734view07:49, 15 August 2019Akutmon
105733view07:29, 15 August 2019Akutmon
105732view07:28, 15 August 2019Akutmon
105726view15:33, 14 August 2019DeSlOntology Term : 'methylmalonic acidemia pathway' added !
105725view15:33, 14 August 2019DeSlOntology Term : 'methylmalonic acidemia' added !
105724view15:33, 14 August 2019DeSlOntology Term : 'propionic acidemia pathway' added !
105723view15:32, 14 August 2019DeSlOntology Term : 'propionic acidemia' added !
105722view15:32, 14 August 2019DeSlOntology Term : 'methylmalonate semialdehyde dehydrogenase deficiency pathway' added !
105721view15:30, 14 August 2019DeSlOntology Term : 'isobutyryl-CoA dehydrogenase deficiency pathway' added !
105720view15:29, 14 August 2019DeSlOntology Term : 'malonic aciduria pathway' added !
105719view15:27, 14 August 2019DeSlOntology Term : '3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway' added !
105718view15:26, 14 August 2019DeSlOntology Term : '3-methylglutaconic aciduria type 4' added !
105717view15:24, 14 August 2019DeSlOntology Term : '3-Methylcrotonyl-CoA carboxylase deficiency' added !
105716view15:24, 14 August 2019DeSlOntology Term : 'isovaleric acidemia pathway' added !
105715view15:24, 14 August 2019DeSlOntology Term : 'isovaleric acidemia' added !
105714view15:23, 14 August 2019DeSlOntology Term : 'maple syrup urine disease pathway' added !
105713view15:23, 14 August 2019DeSlOntology Term : 'maple syrup urine disease' added !
105712view14:47, 14 August 2019AkutmonOntology Term : 'valine metabolic pathway' added !
105711view14:46, 14 August 2019AkutmonOntology Term : 'isoleucine metabolic pathway' added !
105710view14:46, 14 August 2019AkutmonOntology Term : 'leucine metabolic pathway' added !
105709view14:46, 14 August 2019AkutmonOntology Term : 'inherited metabolic disorder' added !
105708view14:45, 14 August 2019AkutmonNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
2-Ethylhydracrylic acidMetabolite
2-HydroxyisocaproateMetaboliteCHEBI:133577 (ChEBI)
2-HydroxyisovalerateMetabolite
2-Hyroxy-methylvalerateMetabolite
2-Methyl-3-hydroxy-butyrylcarnitineMetabolite
2-Methyl-3-hydroxybutyrateMetabolite
2-Methyl-3-hydroxybutyryl-carnitineMetabolite
2-Methylaceto-acetyl-CoAMetabolite
2-Methylacetoacetic acidMetabolite
2-Methylbulyryl-CoAMetabolite
2-MethylbutyrylcarnitineMetabolite
2-MethylbutyrylglycineMetabolite
2-Methzl-3-hydroxy-butyryl-CoAMetabolite
2-Oxo-3-methylvalerateMetabolite
2-Oxo-isovalerateMetaboliteCHEBI:11851 (ChEBI)
2-OxoisocaproateMetaboliteCHEBI:17865 (ChEBI)
2-OxoisovalerateMetaboliteCHEBI:11851 (ChEBI)
3-Aminoisobutyric acidMetabolite
3-Hydroxy-3-methylglutarateMetaboliteCHEBI:30920 (ChEBI)
3-Hydroxy-3-methylglutaryl-CoAMetaboliteCHEBI:43074 (ChEBI)
3-HydroxybutyrateMetaboliteCHEBI:37054 (ChEBI)
3-Hydroxyhexanoyl-carnitineMetabolite131770386 (PubChem-compound)
3-Hydroxyiso-butyryl-CoAMetabolite
3-HydroxyisobutyrateMetabolite
3-HydroxyisobutyrylcarnitineMetabolite
3-HydroxyisovalerateMetaboliteCHEBI:82957 (ChEBI)
3-HydroxypropionateMetabolite
3-Hydroxypropionic acidMetabolite
3-Methyl-glutaconyl-CoAMetaboliteCHEBI:57346 (ChEBI)
3-Methylcrotonyl-CoAMetaboliteCHEBI:57344 (ChEBI)
3-MethylcrotonylglycineMetaboliteCHEBI:68499 (ChEBI)
3-MethylglutaconateMetaboliteCHEBI:133513 (ChEBI)
3-MethylglutarateMetabolite11781 (Chemspider)
3-MethylglutarylcarnitineMetaboliteCHEBI:70857 (ChEBI)
4-Hydroxyisovaleric acidMetabolite131760 (PubChem-compound)
ACSF3Protein
AcetoacetateMetaboliteCHEBI:13705 (ChEBI)
Acetyl-CoAMetaboliteCHEBI:57288 (ChEBI)
AminotransferaseProtein
Beta-alanineMetabolite
Beta-ketothiolaseProtein
BiotinMetaboliteCHEBI:15956 (ChEBI) "alpha subunit is covalently bound to biotin, which is essential for the ATP-dependent carboxylation". Source: [https://en.wikipedia.org/wiki/Methylcrotonyl-CoA_carboxylase#Protein]
C5-HydroxyacylcarnitineMetaboliteAKA C5-OH Acylcarnitine
C5-HydroxyacylcyarnitineMetaboliteAKA C5-OH Acylcarnitine
DHProteinQ02252 (Uniprot-TrEMBL)
DHProteinQ6NVY1 (Uniprot-TrEMBL)
DeacylaseProteinQ6NVY1 (Uniprot-TrEMBL)
E1 (alpha)ProteinP12694 (Uniprot-TrEMBL) E1 uses thiamine pyrophosphate (TPP) as a catalytic cofactor.
E1 (beta)ProteinP21953 (Uniprot-TrEMBL) E1 uses thiamine pyrophosphate (TPP) as a catalytic cofactor.
E2 (aka DBT)ProteinP11182 (Uniprot-TrEMBL)
E3 (aka DLD)ProteinP09622 (Uniprot-TrEMBL)
Ethylmalonic acidMetabolite
HMG-CoA lyaseProteinQ8TB92 (Uniprot-TrEMBL)
HydrataseProtein
HydrataseProteinQ13825 (Uniprot-TrEMBL) AKA Methylglutaconyl-CoA hydratase
IBDProteinQ9UKU7 (Uniprot-TrEMBL)
IVDProteinP26440 (Uniprot-TrEMBL)
Isobutyryl-CoAMetaboliteCHEBI:15479 (ChEBI)
IsobutyrylcarnitineMetabolite
IsobutyrylglycineMetabolite
IsoleucineMetaboliteCHEBI:24898 (ChEBI)
Isovaleric acidMetaboliteCHEBI:28484 (ChEBI)
IsovaleryglucuronideMetabolite137383 (PubChem-compound)
Isovaleryl-CoAMetaboliteCHEBI:57345 (ChEBI)
IsovalerylcarnitineMetaboliteCHEBI:73025 (ChEBI)
IsovalerylglycineMetaboliteCHEBI:70984 (ChEBI)
Ketone BodiesMetaboliteCHEBI:73693 (ChEBI)
L-IsoleucineMetaboliteCHEBI:17191 (ChEBI)
L-LeucineMetaboliteCHEBI:15603 (ChEBI)
L-ValineMetaboliteCHEBI:57762 (ChEBI)
LeucineMetaboliteCHEBI:25017 (ChEBI)
MBDProteinP45954 (Uniprot-TrEMBL)
MCC alphaProteinQ96RQ3 (Uniprot-TrEMBL) "alpha subunit is covalently bound to biotin, which is essential for the ATP-dependent carboxylation". Source: [https://en.wikipedia.org/wiki/Methylcrotonyl-CoA_carboxylase#Protein]
MCC alphaProteinQ9HCC0 (Uniprot-TrEMBL)
MHBDProteinQ99714 (Uniprot-TrEMBL)
Malonic acidMetabolite
Malonyl-CoAMetabolite
Malonyl-CoA decarboxylaseProteinO95822 (Uniprot-TrEMBL)
MalonylcarnitineMetabolite
Melonate/MethylmalonateMetabolite
Methacrylyl-CoAMetabolite
MethylmalonateMetabolite
Methylmalonate semialdehydeMetabolite
Methylmalonic acidMetabolite
Methylmalonyl-CoAMetabolite
MethylmalonylcarnitineMetabolite
MutaseProteinP22033 (Uniprot-TrEMBL)
PCCProtein
Propionyl-CoAMetabolite
PropionylcarnitineMetabolite
PropionylglycineMetabolite
R,S-MethylcitrateMetabolite
S-2-carboxypropylcysteamineMetabolite
S-2-carboxypropylcysteineMetabolite
Succinyl-CoAMetabolite
TiglycarnitineMetabolite
Tiglyl-CoAMetabolite
TiglylcarnitineMetabolite
TiglylglycineMetabolite
TiglylgycineMetabolite
ValineMetaboliteCHEBI:27266 (ChEBI)

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
2-Oxo-isovalerateIsobutyryl-CoAmim-conversion13458 (Rhea)
2-OxoisocaproateIsovaleryl-CoAmim-conversion25178 (Rhea)
3-Hydroxy-3-methylglutaryl-CoAAcetoacetatemim-conversion24405 (Rhea)
3-Methyl-glutaconyl-CoA3-Hydroxy-3-methylglutaryl-CoAmim-conversion21538 (Rhea)
3-Methylcrotonyl-CoA3-Methyl-glutaconyl-CoAmim-conversion13590 (Rhea)
Acetyl-CoAmim-conversion24405 (Rhea)
Isovaleryl-CoA3-Methylcrotonyl-CoAmim-conversion31064 (Rhea) Annotated with RHEA:31064 (uses FAD) iso RHEA:12277 (which uses flavoproteins, unlikely being used in this reaction). Rhea links out to correct Uniprot ID, however Uniprot only provides later Rhea-ID.
L-Valine2-Oxo-isovaleratemim-conversion22913 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4686"
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