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Xu, R. Multiple Sulfatase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4382 (accessed on 29 September 2026).
Xu R. Multiple Sulfatase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4382. Accessed September 29, 2026.
Xu, Rita. "Multiple Sulfatase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4382 (accessed September 29, 2026).
Xu, R. (2020, December 23). Multiple Sulfatase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4382
Xu, Rita. "Multiple Sulfatase Deficiency." Encyclopedia. Web. 23 December, 2020.
Multiple Sulfatase Deficiency
Edit

Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.

genetic conditions

References

  1. Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M,Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J,Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Complex care ofindividuals with multiple sulfatase deficiency: Clinical cases and consensusstatement. Mol Genet Metab. 2018 Mar;123(3):337-346. doi:10.1016/j.ymgme.2018.01.005.
  2. Annunziata I, Bouchè V, Lombardi A, Settembre C, Ballabio A. Multiplesulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. HumMutat. 2007 Sep;28(9):928.
  3. Blanco-Aguirre ME, Kofman-Alfaro SH, Rivera-Vega MR, Medina C, Valdes-FloresM, Rizzo WB, Cuevas-Covarrubias SA. Unusual clinical presentation in two cases ofmultiple sulfatase deficiency. Pediatr Dermatol. 2001 Sep-Oct;18(5):388-92.
  4. Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, DiDomenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E,Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Molecularand functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat. 2004 Jun;23(6):576-81.
  5. Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, vonFigura K. Multiple sulfatase deficiency is caused by mutations in the geneencoding the human C(alpha)-formylglycine generating enzyme. Cell. 2003 May16;113(4):435-44.
  6. Díaz-Font A, Santamaría R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabás A,Vilageliu L, Grinberg D. Clinical and mutational characterization of threepatients with multiple sulfatase deficiency: report of a new splicing mutation.Mol Genet Metab. 2005 Sep-Oct;86(1-2):206-11.
  7. Incecik F, Ozbek MN, Gungor S, Pepe S, Herguner OM, Mungan NO, Gungor S,Altunbasak S. Multiple sulfatase deficiency: A case series of four children. Ann Indian Acad Neurol. 2013 Oct;16(4):720-2. doi: 10.4103/0972-2327.120449.
  8. Schlotawa L, Ennemann EC, Radhakrishnan K, Schmidt B, Chakrapani A, ChristenHJ, Moser H, Steinmann B, Dierks T, Gärtner J. SUMF1 mutations affectingstability and activity of formylglycine generating enzyme predict clinicaloutcome in multiple sulfatase deficiency. Eur J Hum Genet. 2011 Mar;19(3):253-61.doi: 10.1038/ejhg.2010.219.
  9. Schlotawa L, Preiskorn J, Ahrens-Nicklas R, Schiller S, Adang LA, Gärtner J,Friede T. A systematic review and meta-analysis of published cases reveals thenatural disease history in multiple sulfatase deficiency. J Inherit Metab Dis.2020 Nov;43(6):1288-1297. doi: 10.1002/jimd.12282.
  10. Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T,Gärtner J. Rapid degradation of an active formylglycine generating enzyme variantleads to a late infantile severe form of multiple sulfatase deficiency. Eur J HumGenet. 2013 Sep;21(9):1020-3. doi: 10.1038/ejhg.2012.291.
  11. Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gärtner J. Molecularanalysis of SUMF1 mutations: stability and residual activity of mutantformylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. Hum Mutat. 2008 Jan;29(1):205.
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Update Date: 23 Dec 2020
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