Mucolipidosis III Alpha/Beta

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Xu, R. Mucolipidosis III Alpha/Beta. Encyclopedia. Available online: https://encyclopedia.pub/entry/4292 (accessed on 29 September 2026).

Xu R. Mucolipidosis III Alpha/Beta. Encyclopedia. Available at: https://encyclopedia.pub/entry/4292. Accessed September 29, 2026.

Xu, Rita. "Mucolipidosis III Alpha/Beta" Encyclopedia, https://encyclopedia.pub/entry/4292 (accessed September 29, 2026).

Xu, R. (2020, December 23). Mucolipidosis III Alpha/Beta. In Encyclopedia. https://encyclopedia.pub/entry/4292

Xu, Rita. "Mucolipidosis III Alpha/Beta." Encyclopedia. Web. 23 December, 2020.

Mucolipidosis III Alpha/Beta

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mucolipidosis-iii-alpha-beta

Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time.

genetic conditions

References

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.
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.
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.
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.
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.
Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, KornfeldS, Steinmann B. A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferasegene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A. 2005 Feb 1;132A(4):369-75.
Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T. Missensemutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am J Med Genet A.2005 Sep 1;137A(3):235-40.
Tylki-Szymańska A, Czartoryska B, Groener JE, Ługowska A. Clinical variabilityin mucolipidosis III (pseudo-Hurler polydystrophy). Am J Med Genet. 2002 Mar15;108(3):214-8.
van Meel E, Qian Y, Kornfeld SA. Mislocalization of phosphotransferase as acause of mucolipidosis III αβ. Proc Natl Acad Sci U S A. 2014 Mar4;111(9):3532-7. doi: 10.1073/pnas.1401417111.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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