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

Cited In

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Organism

Homo sapiens

Communities

Inborn Errors of Metabolism (IEM) Pathways Rare Diseases

Annotations

Disease Ontology: D-2-hydroxyglutaric aciduria organic acidemia Canavan disease 2-hydroxyglutaric aciduria

Pathway Ontology: lysine degradation pathway disease pathway glutaric aciduria type I pathway

Participants

References

1. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Springer; 2014. 867 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
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3. Chalmers RA, Lawson AM, Watts RW, Tavill AS, Kamerling JP, Hey E, et al. D-2-hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis. 1980;3(1):11–5. PubMed Europe PMC Scholia
4. Hoffmann GF, Böhles HJ, Burlina A, Duran M, Herwig J, Lehnert W, et al. Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1995;18(2):173–6. PubMed Europe PMC Scholia
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6. Rzem R, Van Schaftingen E, Veiga-da-Cunha M. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie. 2006 Jan;88(1):113–6. PubMed Europe PMC Scholia
7. Hedlund GL, Longo N, Pasquali M. Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86–94. PubMed Europe PMC Scholia
8. Arun P, Moffett JR, Namboodiri AMA. Evidence for mitochondrial and cytoplasmic N-acetylaspartate synthesis in SH-SY5Y neuroblastoma cells. Neurochem Int. 2009 Sep;55(4):219–25. PubMed Europe PMC Scholia
9. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, et al. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 Oct 15;330(6002):336. PubMed Europe PMC Scholia