Mucopolysaccharidosis Type I

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Xu, R. Mucopolysaccharidosis Type I. Encyclopedia. Available online: https://encyclopedia.pub/entry/4311 (accessed on 27 September 2026).

Xu R. Mucopolysaccharidosis Type I. Encyclopedia. Available at: https://encyclopedia.pub/entry/4311. Accessed September 27, 2026.

Xu, Rita. "Mucopolysaccharidosis Type I" Encyclopedia, https://encyclopedia.pub/entry/4311 (accessed September 27, 2026).

Xu, R. (2020, December 23). Mucopolysaccharidosis Type I. In Encyclopedia. https://encyclopedia.pub/entry/4311

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

Mucopolysaccharidosis Type I

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

Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.

genetic conditions

References

Campos D, Monaga M. Mucopolysaccharidosis type I: current knowledge on itspathophysiological mechanisms. Metab Brain Dis. 2012 Jun;27(2):121-9. doi:10.1007/s11011-012-9302-1.
Clarke LA. Mucopolysaccharidosis Type I. 2002 Oct 31 [updated 2016 Feb 11].In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1162/
Clarke LA. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med. 2008 Jan 18;10:e1. doi: 10.1017/S1462399408000550. Review.
Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival inMucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.Orphanet J Rare Dis. 2008 Sep 16;3:24. doi: 10.1186/1750-1172-3-24.
Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 Suppl):S27-34.Review.
Pastores GM, Arn P, Beck M, Clarke JT, Guffon N, Kaplan P, Muenzer J, NoratoDY, Shapiro E, Thomas J, Viskochil D, Wraith JE. The MPS I registry: design,methodology, and early findings of a global disease registry for monitoringpatients with Mucopolysaccharidosis Type I. Mol Genet Metab. 2007May;91(1):37-47.
Terlato NJ, Cox GF. Can mucopolysaccharidosis type I disease severity bepredicted based on a patient's genotype? A comprehensive review of theliterature. Genet Med. 2003 Jul-Aug;5(4):286-94. Review.
Vijay S, Wraith JE. Clinical presentation and follow-up of patients with theattenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr. 2005Jul;94(7):872-7.

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Subjects: Genetics & Heredity

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