Cerebral Organic Acidurias, including diseases (Homo sapiens)

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1Glutaric aciduria type ID-2-hydroxyglutaric aciduria type ID-2-hydroxyglutaric aciduria type IIL-2-hydrxoglutaric aciduriaCanavan DiseaseGlutaric acidGlutaconyl coenzyme A3-Hydroxyglutaric acidFADTCA cycleTryptophanNADPHIDH2D-2-hydroxyglutarate dehydrogenaseAcetyl coenzyme Aglutaryl-coenzyme AL-2-Aminoadipic acidFADH2Glutaconic acidNADPH+L-2-Hydroxyglutaric acidNADH2-Oxoadipic acidL2HGDH2N-acetylaspartateH+L-malDHSaccharopine pathwayHydroxyacid-oxoacid transhydrogenaseAspartatehydroxylysineGlutaryl-Coenzyme A dehydrogenaseCoenzyme Alysine2-Ketoglutaric acidAminoacylase-2CROTONYL COENZYME ANAD+D-2-Hydroxyglutaric acidPipecolic acid pathway2-aminoadipic semialdehydeAspartateH+Acetyl coenzyme Aglutarylcarnitine3-hydroxyglutaryl coenzyme a


This pathway shows disorders related to the accumulation of organic acids in body fluids, resulting in cerebral organic acidurias. Symptoms often include mental or motor retardation, difficulties while moving and epilepsy. For all but one disorder, current treatment options have been proven ineffective. Disorders resulting from an enzyme defect are highlighted in purple.

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  2. Kvittingen EA, Guldal G, Børsting S, Skalpe IO, Stokke O, Jellum E; ''N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.''; Clin Chim Acta, 1986 PubMed Europe PMC Scholia
  3. Arun P, Moffett JR, Namboodiri AM; ''Evidence for mitochondrial and cytoplasmic N-acetylaspartate synthesis in SH-SY5Y neuroblastoma cells.''; Neurochem Int, 2009 PubMed Europe PMC Scholia
  4. Hedlund GL, Longo N, Pasquali M; ''Glutaric acidemia type 1.''; Am J Med Genet C Semin Med Genet, 2006 PubMed Europe PMC Scholia
  5. Blau, Nenad, Duran, Marinus, gibson, K.Michael, Dionisi-Vici, Carlo; '' ''Physician's Guidee to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases'''''; , 2014
  6. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS; ''IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.''; Science, 2010 PubMed Europe PMC Scholia
  7. Hoffmann GF, Böhles HJ, Burlina A, Duran M, Herwig J, Lehnert W, Leonard JV, Muntau A, Plecko-Starting FK, Superti-Furga A; ''Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.''; J Inherit Metab Dis, 1995 PubMed Europe PMC Scholia
  8. Chalmers RA, Lawson AM, Watts RW, Tavill AS, Kamerling JP, Hey E, Ogilvie D; ''D-2-hydroxyglutaric aciduria: case report and biochemical studies.''; J Inherit Metab Dis, 1980 PubMed Europe PMC Scholia
  9. Rzem R, Van Schaftingen E, Veiga-da-Cunha M; ''The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.''; Biochimie, 2006 PubMed Europe PMC Scholia


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108083view11:51, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
106202view12:09, 16 August 2019MaintBotHMDB identifier normalization
104246view18:45, 11 May 2019EgonwRemoved a copy/paste error.
104245view18:44, 11 May 2019EgonwRemoved the RHEA: prefix from the identifier.
104031view17:43, 25 April 2019IreneHemelModified description
103578view10:17, 18 March 2019EviSchoenmakerLayout adjustment
103563view09:55, 15 March 2019BrittPietersChanged gene product to proteins
103391view19:08, 25 February 2019DeSlUpdated ID for N-acetylaspartate (was annotated with protein ID, not metabolite ID).
103389view15:33, 25 February 2019DeSlRemoved weird signs in lit. ref
103317view09:15, 22 February 2019BrittPietersTest for CHEBI adaptations
103253view15:27, 18 February 2019BrittPietersAdded Antiquitin
103246view10:27, 18 February 2019BrittPietersChanges in Rhea ID
103241view09:49, 18 February 2019BrittPietersChange Rhea ID
103231view08:53, 18 February 2019BrittPietersAdded reference
103229view08:48, 18 February 2019BrittPietersAdded reference
103228view08:40, 18 February 2019BrittPietersOntology Term : 'lysine degradation pathway' added !
103226view08:38, 18 February 2019BrittPietersOntology Term : 'organic acidemia' added !
103221view08:31, 18 February 2019BrittPietersModified description
103220view08:30, 18 February 2019BrittPietersAdded comments Denise
103214view14:33, 17 February 2019DeSlChanged arrows for diseases to graphical interactions, some layout changes.
103181view15:02, 15 February 2019BrittPietersModified description
103174view14:47, 15 February 2019EviSchoenmakerArrow, boxes and overal layout changes
103159view13:59, 15 February 2019BrittPietersAdded references
103149view11:49, 15 February 2019BrittPietersAdded references
103145view09:38, 15 February 2019BrittPietersAdded interactions
103142view09:14, 15 February 2019BrittPietersAdded Rehia id's
103132view14:53, 14 February 2019BrittPietersModified description
103124view17:50, 13 February 2019DeSlModified title
103112view13:19, 13 February 2019BrittPietersAddition of references
103111view13:09, 13 February 2019BrittPietersOntology Term : 'D-2-hydroxyglutaric aciduria' added !
103110view13:08, 13 February 2019BrittPietersOntology Term : '2-hydroxyglutaric aciduria' added !
103109view13:08, 13 February 2019BrittPietersOntology Term : 'glutaric aciduria type I pathway' added !
103108view13:07, 13 February 2019BrittPietersOntology Term : 'Canavan disease' added !
103107view13:06, 13 February 2019BrittPietersModified description
103105view13:01, 13 February 2019BrittPietersModified title
103104view13:01, 13 February 2019BrittPietersModified description
103103view12:56, 13 February 2019BrittPietersNew pathway

External references


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NameTypeDatabase referenceComment
2-Ketoglutaric acidMetaboliteCHEBI:1253 (ChEBI)
2-Oxoadipic acidMetaboliteCHEBI:1247 (ChEBI)
2-aminoadipic semialdehydeMetaboliteCHEBI:61515 (ChEBI)
3-Hydroxyglutaric acidMetaboliteHMDB00428 (HMDB)
3-hydroxyglutaryl coenzyme aMetabolite445127 (PubChem-compound)
Acetyl coenzyme AMetaboliteCHEBI:2408 (ChEBI)
Aminoacylase-2ProteinA0A1B0GTG3 (Uniprot-TrEMBL)
AspartateMetaboliteCHEBI:17053 (ChEBI)
Coenzyme AMetaboliteCHEBI:3771 (ChEBI)
D-2-Hydroxyglutaric acidMetaboliteHMDB00606 (HMDB)
D-2-hydroxyglutarate dehydrogenaseProteinB5MCV2 (Uniprot-TrEMBL)
FADMetaboliteCHEBI:4956 (ChEBI)
FADH2MetaboliteCHEBI:4957 (ChEBI)
Glutaconic acidMetaboliteCHEBI:24309 (ChEBI)
Glutaconyl coenzyme AMetabolite9543050 (PubChem-compound)
Glutaric acidMetaboliteCHEBI:5434 (ChEBI)
Glutaryl-Coenzyme A dehydrogenaseProteinA0A024R7F9 (Uniprot-TrEMBL)
H+MetaboliteCHEBI:5584 (ChEBI)
Hydroxyacid-oxoacid transhydrogenaseProteinB4DFI7 (Uniprot-TrEMBL)
IDH2GeneProductENSG00000182054 (Ensembl)
L-2-Aminoadipic acidMetaboliteCHEBI:37024 (ChEBI)
L-2-Hydroxyglutaric acidMetaboliteHMDB00694 (HMDB)
L-malDHProteinA0A024R4K3 (Uniprot-TrEMBL)
L2HGDHGeneProductENSG00000087299 (Ensembl)
N-acetylaspartateProteinA0A0C4DFQ6 (Uniprot-TrEMBL)
NAD+MetaboliteCHEBI:7422 (ChEBI)
NADHMetaboliteCHEBI:7423 (ChEBI)
NADPH+MetaboliteHMDB00221 (HMDB)
NADPHMetaboliteCHEBI:7425 (ChEBI)
Pipecolic acid pathwayPathway
Saccharopine pathwayPathway
TCA cyclePathwayWP78 (WikiPathways)
TryptophanMetaboliteCHEBI:6310 (ChEBI)
glutaryl-coenzyme AMetaboliteCHEBI:15524 (ChEBI)
glutarylcarnitineMetaboliteCHEBI:73040 (ChEBI)
hydroxylysineMetaboliteCHEBI:60175 (ChEBI)
lysineMetaboliteCHEBI:25094 (ChEBI)

Annotated Interactions

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SourceTargetTypeDatabase referenceComment
2-Ketoglutaric acidD-2-Hydroxyglutaric acidmim-conversionRHEA:49614 (Rhea)
2-Ketoglutaric acidmim-conversionRHEA:49614 (Rhea)
AspartateN-acetylaspartatemim-conversionRHEA:14166 (Rhea)
L-2-Hydroxyglutaric acid2-Ketoglutaric acidmim-conversionRHEA:21253 (Rhea)
L-2-Hydroxyglutaric acidmim-conversionRHEA:21253 (Rhea)
N-acetylaspartateAspartatemim-conversionRHEA:14167 (Rhea)
NADPHRHEA:49614 (Rhea)
glutaryl-coenzyme AGlutaconyl coenzyme Amim-conversionRHEA:47421 (Rhea)
glutaryl-coenzyme AGlutaric acidmim-conversionRHEA:40576 (Rhea)
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