Mucopolysaccharidosis Type VI

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Rita Xu	+ 600 word(s)	600	2020-12-15 07:32:05

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Xu, R. Mucopolysaccharidosis Type VI. Encyclopedia. Available online: https://encyclopedia.pub/entry/4324 (accessed on 29 September 2026).

Xu R. Mucopolysaccharidosis Type VI. Encyclopedia. Available at: https://encyclopedia.pub/entry/4324. Accessed September 29, 2026.

Xu, Rita. "Mucopolysaccharidosis Type VI" Encyclopedia, https://encyclopedia.pub/entry/4324 (accessed September 29, 2026).

Xu, R. (2020, December 23). Mucopolysaccharidosis Type VI. In Encyclopedia. https://encyclopedia.pub/entry/4324

Xu, Rita. "Mucopolysaccharidosis Type VI." Encyclopedia. Web. 23 December, 2020.

Mucopolysaccharidosis Type VI

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vi

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.

genetic conditions

References

Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP,Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E,Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM,Palhares D, Kim CA, Giugliani R. Clinical and biochemical study of 28 patientswith mucopolysaccharidosis type VI. Clin Genet. 2004 Sep;66(3):208-13.
Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C,Kohlschütter A, Kampmann C, Beck M. Cumulative incidence rates of themucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28(6):1011-7.
Clarke LA. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med. 2008 Jan 18;10:e1. doi: 10.1017/S1462399408000550. Review.
Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinianmucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novelmutations. Mol Genet Metab. 2007 Sep-Oct;92(1-2):122-30.
Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L.Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Mol Genet Metab. 2008Jul;94(3):305-12. doi: 10.1016/j.ymgme.2008.02.012.
Giugliani R, Harmatz P, Wraith JE. Management guidelines formucopolysaccharidosis VI. Pediatrics. 2007 Aug;120(2):405-18. Review.
Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR,Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N,Leão Teles E, Sá Miranda MC, Hopwood JJ. Mutational analysis of 105mucopolysaccharidosis type VI patients. Hum Mutat. 2007 Sep;28(9):897-903.
Lin HY, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, Chao MC, Chiu PC, Lin SJ,Tsai LP, Hwu WL, Lin JL. Incidence of the mucopolysaccharidoses in Taiwan,1984-2004. Am J Med Genet A. 2009 May;149A(5):960-4. doi: 10.1002/ajmg.a.32781.
Litjens T, Hopwood JJ. Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutat. 2001Oct;18(4):282-95. Review.
Nelson J, Crowhurst J, Carey B, Greed L. Incidence of themucopolysaccharidoses in Western Australia. Am J Med Genet A. 2003 Dec15;123A(3):310-3. Review.
Tessitore A, Pirozzi M, Auricchio A. Abnormal autophagy, ubiquitination,inflammation and apoptosis are dependent upon lysosomal storage and are usefulbiomarkers of mucopolysaccharidosis VI. Pathogenetics. 2009 Jun 16;2(1):4. doi:10.1186/1755-8417-2-4.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

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 : Rita Xu

View Times: 632

Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

Table of Contents

Video Upload Options

References