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Xu, R. Mucolipidosis II Alpha/Beta. Encyclopedia. Available online: https://encyclopedia.pub/entry/4288 (accessed on 29 September 2026).
Xu R. Mucolipidosis II Alpha/Beta. Encyclopedia. Available at: https://encyclopedia.pub/entry/4288. Accessed September 29, 2026.
Xu, Rita. "Mucolipidosis II Alpha/Beta" Encyclopedia, https://encyclopedia.pub/entry/4288 (accessed September 29, 2026).
Xu, R. (2020, December 23). Mucolipidosis II Alpha/Beta. In Encyclopedia. https://encyclopedia.pub/entry/4288
Xu, Rita. "Mucolipidosis II Alpha/Beta." Encyclopedia. Web. 23 December, 2020.
Mucolipidosis II Alpha/Beta
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mucolipidosis-ii-alpha-beta

Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood.

genetic conditions

References

  1. Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A. When MucolipidosisIII meets Mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab.2006 Aug;88(4):359-63.Jul;91(3):299.
  2. Braulke T, Pohl S, Storch S. Molecular analysis of theGlcNac-1-phosphotransferase. J Inherit Metab Dis. 2008 Apr;31(2):253-7. doi:10.1007/s10545-008-0862-5.
  3. Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA,Canfield WM, Leroy JG, Neufeld EF, McKusick VA. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A. 2008 Feb 15;146A(4):512-3. doi:10.1002/ajmg.a.32193.
  4. Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, FriezMJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736.
  5. Kudo M, Brem MS, Canfield WM. Mucolipidosis II (I-cell disease) andmucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused bymutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.Am J Hum Genet. 2006 Mar;78(3):451-63.
  6. Leroy JG, Cathey SS, Friez MJ. GNPTAB-Related Disorders. 2008 Aug 26 [updated 2019 Aug 29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1828/
  7. Otomo T, Higaki K, Nanba E, Ozono K, Sakai N. Lysosomal storage causescellular dysfunction in mucolipidosis II skin fibroblasts. J Biol Chem. 2011 Oct 7;286(40):35283-90. doi: 10.1074/jbc.M111.267930.
  8. Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Mucolipidosis II andIII alpha/beta: mutation analysis of 40 Japanese patients showedgenotype-phenotype correlation. J Hum Genet. 2009 Mar;54(3):145-51. doi:10.1038/jhg.2009.3.
  9. Plante M, Claveau S, Lepage P, Lavoie EM, Brunet S, Roquis D, Morin C, Vézina H, Laprise C. Mucolipidosis II: a single causal mutation in theN-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadianfounder population. Clin Genet. 2008 Mar;73(3):236-44. doi:10.1111/j.1399-0004.2007.00954.x.
  10. Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J. Prenatal mucolipidosis typeII (I-cell disease) can present as Pacman dysplasia. Am J Med Genet A. 2005 Jun15;135(3):328-32.
  11. Takanashi J, Hayashi M, Yuasa S, Satoh H, Terada H. Hypoyelination in I-celldisease; MRI, MR spectroscopy and neuropathological correlation. Brain Dev. 2012 Oct;34(9):780-3. doi: 10.1016/j.braindev.2011.12.013.
  12. Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/betaGlcNAc-1-phosphotransferase. Nat Med. 2005 Oct;11(10):1109-12.
  13. Wilcox WR, Wenger DA, Lachman RS, Rimoin DL. Distinguishing Pacman dysplasiafrom mucolipidosis II: comment on Saul et al. [2005]. Am J Med Genet A. 2005 Jun 15;135(3):333.
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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 : Rita Xu
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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