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| Version | Summary | Created by | Modification | Content Size | Created at | Operation |
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| 1 | Camila Xu | + 534 word(s) | 534 | 2020-12-15 07:24:55 |
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Xu, C. GM3 Synthase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/3948 (accessed on 29 September 2026).
Xu C. GM3 Synthase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/3948. Accessed September 29, 2026.
Xu, Camila. "GM3 Synthase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/3948 (accessed September 29, 2026).
Xu, C. (2020, December 23). GM3 Synthase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/3948
Xu, Camila. "GM3 Synthase Deficiency." Encyclopedia. Web. 23 December, 2020.
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GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development.
genetic conditions
References
- Farukhi F, Dakkouri C, Wang H, Wiztnitzer M, Traboulsi EI. Etiology of vision loss in ganglioside GM3 synthase deficiency. Ophthalmic Genet. 2006Sep;27(3):89-91.
- Fragaki K, Ait-El-Mkadem S, Chaussenot A, Gire C, Mengual R, Bonesso L,Bénéteau M, Ricci JE, Desquiret-Dumas V, Procaccio V, Rötig A, Paquis-FlucklingerV. Refractory epilepsy and mitochondrial dysfunction due to GM3 synthasedeficiency. Eur J Hum Genet. 2013 May;21(5):528-34. doi: 10.1038/ejhg.2012.202.
- Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G,Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, ButtersTD, Platt FM, Crosby AH. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet. 2004Nov;36(11):1225-9.
- Wang H, Bright A, Xin B, Bockoven JR, Paller AS. Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. Am J Med Genet A. 2013Apr;161A(4):875-9. doi: 10.1002/ajmg.a.35826.
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