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Xu, C. Isolated Sulfite Oxidase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4195 (accessed on 13 September 2026).
Xu C. Isolated Sulfite Oxidase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4195. Accessed September 13, 2026.
Xu, Camila. "Isolated Sulfite Oxidase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4195 (accessed September 13, 2026).
Xu, C. (2020, December 23). Isolated Sulfite Oxidase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4195
Xu, Camila. "Isolated Sulfite Oxidase Deficiency." Encyclopedia. Web. 23 December, 2020.
Isolated Sulfite Oxidase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/isolated-sulfite-oxidase-deficiency

Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe "classic" form that starts in the newborn period and a milder, late-onset form that begins later in infancy or early childhood.

genetic conditions

References

  1. Bindu PS, Christopher R, Mahadevan A, Bharath RD. Clinical and imagingobservations in isolated sulfite oxidase deficiency. J Child Neurol. 2011Aug;26(8):1036-40. doi: 10.1177/0883073811401399.
  2. Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F,Sabry MA, Rashed MS, Al-Yamani EA, Abu-Amero KK, Salih MA. Neurologic injury inisolated sulfite oxidase deficiency. Can J Neurol Sci. 2014 Jan;41(1):42-8.
  3. Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J,Vermeersch P. Isolated sulfite oxidase deficiency. J Inherit Metab Dis. 2018Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4.
  4. Karakas E, Kisker C. Structural analysis of missense mutations causingisolated sulfite oxidase deficiency. Dalton Trans. 2005 Nov 7;(21):3459-63.
  5. Karakas E, Wilson HL, Graf TN, Xiang S, Jaramillo-Busquets S, Rajagopalan KV, Kisker C. Structural insights into sulfite oxidase deficiency. J Biol Chem. 2005 Sep 30;280(39):33506-15.
  6. Rocha S, Ferreira AC, Dias AI, Vieira JP, Sequeira S. Sulfite oxidasedeficiency--an unusual late and mild presentation. Brain Dev. 2014Feb;36(2):176-9. doi: 10.1016/j.braindev.2013.01.013.
  7. Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG,Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J,Walter M, Yalcinkaya C, Camelo Junior JS. Functional deficiencies of sulfiteoxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. Brain Dev. 2010 Aug;32(7):544-9. doi:10.1016/j.braindev.2009.09.005.
  8. Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE,Krishnamoorthy KS, Shih VE. Isolated sulfite oxidase deficiency: a case reportwith a novel mutation and review of the literature. Pediatrics. 2005Sep;116(3):757-66. Review. Erratum in: Pediatrics. 2005 Dec;116(6):1615.
  9. Touati G, Rusthoven E, Depondt E, Dorche C, Duran M, Heron B, Rabier D, Russo M, Saudubray JM. Dietary therapy in two patients with a mild form of sulphiteoxidase deficiency. Evidence for clinical and biological improvement. J InheritMetab Dis. 2000 Feb;23(1):45-53.
  10. Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M,Sadek AA, Gleeson JG, Abdel Hamid MS. Molybdenum cofactor and isolated sulphiteoxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.Eur J Paediatr Neurol. 2016 Sep;20(5):714-22. doi: 10.1016/j.ejpn.2016.05.011.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 737
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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