Metabolic epileptic disorders (WP5355)

Homo sapiens

Authors

Bhavana Kapalli , Ash Iyer , Egon Willighagen , Javier Millán Acosta , Kristina Hanspers , and Eric Weitz

Activity

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

molybdenum cofactor deficiency pathway neuropsychiatric disease pathway metabolic disease pathway Glut1 deficiency syndrome pathway

Disease Ontology

epilepsy

References

1. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, et al. Hum Mutat. 1995;5(1):34–42. PubMed Europe PMC Scholia
2. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. Topcu M, Coskun T, Haliloglu G, Saatci I. J Child Neurol. 2001 Apr;16(4):264–70. PubMed Europe PMC Scholia
3. Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT). Goh DLM, Patel A, Thomas GH, Salomons GS, Schor DSM, Jakobs C, et al. Mol Genet Metab. 2002 Jul;76(3):172–80. PubMed Europe PMC Scholia
4. Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase. Bennett MJ, Russell LK, Tokunaga C, Narayan SB, Tan L, Seegmiller A, et al. Mol Genet Metab. 2006;89(1–2):74–9. PubMed Europe PMC Scholia
5. Kinetic mechanism of glutaryl-CoA dehydrogenase. Rao KS, Albro M, Dwyer TM, Frerman FE. Biochemistry. 2006 Dec 26;45(51):15853–61. PubMed Europe PMC Scholia
6. Citrullinemia Type I. Quinonez SC, Lee KN. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2004. PubMed Europe PMC Scholia
7. Resurgence of serine: an often neglected but indispensable amino Acid. Kalhan SC, Hanson RW. J Biol Chem. 2012 Jun 8;287(24):19786–91. PubMed Europe PMC Scholia
8. A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, et al. Science. 2012 Jul 6;337(6090):96–100. PubMed Europe PMC Scholia
9. Inborn errors of creatine metabolism and epilepsy. Leuzzi V, Mastrangelo M, Battini R, Cioni G. Epilepsia. 2013 Feb;54(2):217–27. PubMed Europe PMC Scholia
10. An update on serine deficiency disorders. van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, et al. J Inherit Metab Dis. 2013 Jul;36(4):613–9. PubMed Europe PMC Scholia
11. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, et al. Brain. 2014 Nov;137(Pt 11):2903–8. PubMed Europe PMC Scholia
12. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. Sharer JD, Bodamer O, Longo N, Tortorelli S, Wamelink MMC, Young S. Genet Med. 2017 Feb;19(2):256–63. PubMed Europe PMC Scholia
13. Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. Strovel ET, Cowan TM, Scott AI, Wolf B. Genet Med. 2017 Oct;19(10):10.1038/gim.2017.84. PubMed Europe PMC Scholia
14. Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis. Majd H, King MS, Smith AC, Kunji ERS. Biochim Biophys Acta Bioenerg. 2018 Jan;1859(1):1–7. PubMed Europe PMC Scholia
15. Urea Cycle Disorders. Stone WL, Basit H, Jaishankar GB. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022. PubMed Europe PMC Scholia
16. SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism. Kory N, Wyant GA, Prakash G, Uit de Bos J, Bottanelli F, Pacold ME, et al. Science. 2018 Nov 16;362(6416):eaat9528. PubMed Europe PMC Scholia
17. Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus. Osman C, Foulds N, Hunt D, Jade Edwards C, Prevett M. Epilepsia. 2020 Jan;61(1):e1–6. PubMed Europe PMC Scholia
18. Inhibition of the mitochondrial citrate carrier, Slc25a1, reverts steatosis, glucose intolerance, and inflammation in preclinical models of NAFLD/NASH. Tan M, Mosaoa R, Graham GT, Kasprzyk-Pawelec A, Gadre S, Parasido E, et al. Cell Death Differ. 2020 Jul;27(7):2143–57. PubMed Europe PMC Scholia
19. Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature. Alonzo Martínez MC, Cazorla E, Cánovas E, Anniuk K, Cores AE, Serrano AM. Appl Clin Genet. 2020 Jan 30;13:49–55. PubMed Europe PMC Scholia
20. Biotinidase Deficiency. Saleem H, Simpson B. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023. PubMed Europe PMC Scholia
21. Molybdenum cofactor biology, evolution and deficiency. Mayr SJ, Mendel RR, Schwarz G. Biochim Biophys Acta Mol Cell Res. 2021 Jan;1868(1):118883. PubMed Europe PMC Scholia
22. Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients. Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, et al. Genes (Basel). 2021 Dec 29;13(1):84. PubMed Europe PMC Scholia
23. Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures. Kaminiów K, Pająk M, Pająk R, Paprocka J. Brain Sci. 2021 Dec 31;12(1):65. PubMed Europe PMC Scholia