Mucolipidosis III Gamma

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Xu, R. Mucolipidosis III Gamma. Encyclopedia. Available online: https://encyclopedia.pub/entry/4297 (accessed on 29 September 2026).

Xu R. Mucolipidosis III Gamma. Encyclopedia. Available at: https://encyclopedia.pub/entry/4297. Accessed September 29, 2026.

Xu, Rita. "Mucolipidosis III Gamma" Encyclopedia, https://encyclopedia.pub/entry/4297 (accessed September 29, 2026).

Xu, R. (2020, December 23). Mucolipidosis III Gamma. In Encyclopedia. https://encyclopedia.pub/entry/4297

Xu, Rita. "Mucolipidosis III Gamma." Encyclopedia. Web. 23 December, 2020.

Mucolipidosis III Gamma

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

Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3.

genetic conditions

References

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.
Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L,Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Molecularanalysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. Clin Genet. 2009Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x.
Liu S, Zhang W, Shi H, Meng Y, Qiu Z. Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma. Gene. 2014 Feb10;535(2):294-8. doi: 10.1016/j.gene.2013.11.010.
Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, RosanoC, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R,Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M,Beccari T. Identification and molecular characterization of six novel mutationsin the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene inpatients with mucolipidosis III gamma. Hum Mutat. 2009 Jun;30(6):978-84. doi:10.1002/humu.20959.
Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T. Compensatoryexpression of human N-acetylglucosaminyl-1-phosphotransferase subunits inmucolipidosis type III gamma. Biochim Biophys Acta. 2009 Mar;1792(3):221-5. doi: 10.1016/j.bbadis.2009.01.009.
Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A,Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ,Bach G, Zeigler M. Genomic organisation of theUDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and itsmutations in mucolipidosis III. J Med Genet. 2004 Apr;41(4):e52.
Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K,Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM. Molecular basis ofvariant pseudo-hurler polydystrophy (mucolipidosis IIIC). J Clin Invest. 2000Mar;105(5):673-81.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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