Cerebral organic acidurias, including diseases (WP4519)

Homo sapiens

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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 pink. This pathway was inspired by Chapter 8 of the book of Blau (ISBN 3642403360 (978-3642403361)).

Authors

Britt Pieters , Denise Slenter , Eveline Schoenmaker , Irene Hemel , Egon Willighagen , Friederike Ehrhart , Eric Weitz , and Finterly Hu

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Inherited Metabolic Disorders (IMD) Pathways Rare Diseases

Annotations

Pathway Ontology

glutaric aciduria type I pathway disease pathway lysine degradation pathway

Disease Ontology

organic acidemia 2-hydroxyglutaric aciduria Canavan disease D-2-hydroxyglutaric aciduria

Participants
Query Drugst.One

Label Type Compact URI Comment
hydroxylysine Metabolite chebi:60175
Tryptophan Metabolite chebi:16828
Glutaric acid Metabolite chebi:17859
Glutaconyl coenzyme A Metabolite chebi:57353 AKA trans-4-carboxybut-2-enoyl-CoA
3-Hydroxyglutaric acid Metabolite chebi:39980
FAD Metabolite chebi:16238
NADPH Metabolite chebi:16474
Acetyl coenzyme A Metabolite chebi:15351
glutaryl-coenzyme A Metabolite chebi:15524
L-2-Aminoadipic acid Metabolite chebi:37024
FADH2 Metabolite chebi:17877
Glutaconic acid Metabolite chebi:24309
NADPH+ Metabolite hmdb:HMDB0000221
L-2-Hydroxyglutaric acid Metabolite hmdb:HMDB0000694
NADH Metabolite chebi:16908
2-Oxoadipic acid Metabolite chebi:15753
L-N-Acetylaspartate Metabolite chebi:21547
H+ Metabolite chebi:15378
Aspartate Metabolite chebi:17053
Coenzyme A Metabolite chebi:15346
lysine Metabolite chebi:25094
2-Ketoglutaric acid Metabolite chebi:30915 AKA 2-ketoglutarate, 2-oxoglutarate, 2-oxopentanedioic acid, α-ketoglutarate
Crotonyl CoA Metabolite chebi:57332 AKA (E)-but-2-enoyl-CoA
NAD+ Metabolite chebi:15846
D-2-Hydroxyglutaric acid Metabolite chebi:15801
2-aminoadipic semialdehyde Metabolite chebi:61515
glutarylcarnitine Metabolite chebi:73040
3-hydroxyglutaryl CoA Metabolite pubchem.compound:445127
Antiquitin Protein ensembl:ENSG00000164904
IDH2 Protein ensembl:ENSG00000182054
D-2-hydroxyglutarate dehydrogenase Protein uniprot:Q8N465
L2HGDH Protein ensembl:ENSG00000087299
L-malDH Protein uniprot:A0A024R4K3
Hydroxyacid-oxoacid transhydrogenase Protein uniprot:B4DFI7
Aminoacylase-2 Protein uniprot:A0A1B0GTG3 Aka ACY1
Glutaryl-CoA dehydrogenase Protein uniprot:Q92947

References

  1. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Springer; 2014. 0 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
  2. N-acetylaspartic aciduria in a child with a progressive cerebral atrophy. Kvittingen EA, Guldal G, Børsting S, Skalpe IO, Stokke O, Jellum E. Clin Chim Acta. 1986 Aug 15;158(3):217–27. PubMed Europe PMC Scholia
  3. D-2-hydroxyglutaric aciduria: case report and biochemical studies. Chalmers RA, Lawson AM, Watts RW, Tavill AS, Kamerling JP, Hey E, et al. J Inherit Metab Dis. 1980;3(1):11–5. PubMed Europe PMC Scholia
  4. Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. Hoffmann GF, Böhles HJ, Burlina A, Duran M, Herwig J, Lehnert W, et al. J Inherit Metab Dis. 1995;18(2):173–6. PubMed Europe PMC Scholia
  5. SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM IN INFANCY. BANKER BQ, ROBERTSON JT, VICTOR M. Neurology. 1964 Nov;14:981–1001. PubMed Europe PMC Scholia
  6. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Rzem R, Van Schaftingen E, Veiga-da-Cunha M. Biochimie. 2006 Jan;88(1):113–6. PubMed Europe PMC Scholia
  7. Glutaric acidemia type 1. Hedlund GL, Longo N, Pasquali M. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86–94. PubMed Europe PMC Scholia
  8. Evidence for mitochondrial and cytoplasmic N-acetylaspartate synthesis in SH-SY5Y neuroblastoma cells. Arun P, Moffett JR, Namboodiri AMA. Neurochem Int. 2009 Sep;55(4):219–25. PubMed Europe PMC Scholia
  9. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, et al. Science. 2010 Oct 15;330(6002):336. PubMed Europe PMC Scholia