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Mucolipidosis 3

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1966, Maroteaux and Lamy first described four girls with pseudo-Hurler polydystrophy, a condition milder in severity than the Hurler syndrome and similar to the Scheie syndrome but without hepatosplenomegaly, cloudy cornea, or mucopolysacchariduria. In 1970, Spranger and Wiedemann (1970) designated pseudo-Hurler polydystrophy as mucolipidosis III because of Hurler-like features and vacuolated bone marrow cells (Kelly et al. 1975a, b).

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References

  • Abualsuod, A., Hacioglu, Y., Vallurupalli, S., et al. (2014). Cardiac MRI findings in mucolipidosis III. Acta Cardiologica, 69, 564–565.

    PubMed  Google Scholar 

  • Bargal, R., Zeigler, M., Abu-Libdeh, A., et al. (2006). When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients. Molecular Genetics and Metabolism, 88, 359–363.

    Article  CAS  PubMed  Google Scholar 

  • Cathey, S., Friez, M., Wood, T., et al. (2007). Exploring mucolipidosis II and III. Molecular Genetics and Metabolism, 90, 240.

    Google Scholar 

  • Falik-Zaccai, T. C., Zeigler, M., Bargal, R., et al. (2003). Mucolipidosis III type C: First-trimester biochemical and molecular prenatal diagnosis. Prenatal Diagnosis, 23, 211–214.

    Article  CAS  PubMed  Google Scholar 

  • Freisinger, P., Padovani, J. C., & Maroteaux, P. (1992). An atypical form of mucolipidosis III. Journal of Medical Genetics, 29, 834–836.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Herd, J. K., Dvorak, A. D., Wiltse, H. E., et al. (1978). Mucolipidosis type III. Multiple elevated serum and urine enzyme activities. American Journal of Diseases of Children, 132, 1181–1186.

    Article  CAS  PubMed  Google Scholar 

  • Hetherington, C., Harris, N. J., & Smith, T. W. (1999). Orthopaedic management in four cases of mucolipidosis type III. Journal of the Royal Society of Medicine, 92, 244–246.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Honey, N. K., Mueller, O. T., Little, L. E., et al. (1982). Mucolipidosis III is genetically heterogeneous. Proceedings of the National Academy of Sciences of the United States of America, 79, 7420–7424.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kelly, T. E., Thomas, G. H., Taylor, H. A., et al. (1975a). Mucolipidosis III: Clinical and laboratory findings. Birth Defects Original Article Series, 11, 295–299.

    CAS  PubMed  Google Scholar 

  • Kelly, T. E., Thomas, G. H., Taylor, H. A., Jr., et al. (1975b). Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. The Johns Hopkins Medical Journal, 137, 156–175.

    CAS  PubMed  Google Scholar 

  • Leroy, J. G., Cathey, S., & Friez, M. J. (2012). Mucolipidosis III alpha/beta. GeneReviews. Updated 10 May 2012. Available at http://www.ncbi.nlm.nih.gov/books/NBK1875/

  • Little, L. E., Mueller, O. T., Honey, N. K., et al. (1986). Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. Journal of Biological Chemistry, 261, 733–738.

    CAS  PubMed  Google Scholar 

  • Liu, S., Zhang, W., Shi, H., et al. (2014). Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma. Gene, 535, 294–298.

    Article  CAS  PubMed  Google Scholar 

  • Maroteaux, P., & Lamy, M. (1966). La pseudo-polydystrophie de Hurler. Presse Médicale, 74, 2889–2892.

    CAS  PubMed  Google Scholar 

  • Melhem, R., Dorst, J. P., Scott, C. I., Jr., et al. (1973). Roentgen findings in mucolipidosis III (pseudo-Hurler polydystrophy). Radiology, 106, 153–160.

    Article  CAS  PubMed  Google Scholar 

  • Mueller, O. T., Honey, N. K., Little, L. E., et al. (1983). Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. The Journal of Clinical Investigation, 72, 1016–1023.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Raas-Rothschild, A., & Spiegel, R. (2012). Mucolipidosis III gamma. GeneReviews. Updated 5 July 2012. Available at http://www.ncbi.nlm.nih.gov/booksh/NBK24701/

  • Raas-Rothschild, A., Cormier-Daire, V., Bao, M., et al. (2000). Molecular basis for variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). The Journal of Clinical Investigation, 105, 673–681.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Raas-Rothschild, A., Bargal, R., Goldman, O., et al. (2004). Genomic organization of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. Journal of Medical Genetics, 41, e52.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Robinow, M. (1974). Mucolipidosis III. Birth Defects Original Article Series, 10, 267–273.

    CAS  PubMed  Google Scholar 

  • Robinson, C., Baker, N., Noble, J., et al. (2002). The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. Journal of Inherited Metabolic Disease, 25, 681–693.

    Article  CAS  PubMed  Google Scholar 

  • Smuts, I., Potgieter, D., & van der Westhuizen, F. H. (2009). Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review. Annals of the New York Academy of Sciences, 1151, 77–84.

    Article  CAS  PubMed  Google Scholar 

  • Spranger, J. W., & Wiedemann, H. R. (1970). The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik, 9, 113–139.

    CAS  PubMed  Google Scholar 

  • Tiede, S., Storch, S., Lubke, T., et al. (2005). Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine, 11, 1109–1112.

    Article  CAS  PubMed  Google Scholar 

  • Traboulsi, E. I., & Maumenee, I. H. (1986). Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). American Journal of Ophthalmology, 102, 592–597.

    Article  CAS  PubMed  Google Scholar 

  • Tylki-Szymanska, A., Czartoryska, B., Groener, J. E., et al. (2002). Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). American Journal of Medical Genetics, 108, 214–218.

    Article  PubMed  Google Scholar 

  • Umehara, F., Matsumoto, W., Kuriyama, M., et al. (1997). Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. Journal of Neurological Sciences, 146, 167–172.

    Article  CAS  Google Scholar 

  • Van Meel, E., & Kornfeld, S. (2016). Mucolipidosis III GNPTG missense mutations cause misfolding of the γ Subunit of GlcNAc-1-phosphotransferase. Human Mutation, 37, 623–626.

    Article  PubMed  Google Scholar 

  • Zarza, L. P., & Morrondo, C. D. (2014). Skeletal deformities in mucolipidosis III. Rheumatology Clinic, 10, 340–341.

    Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Mucolipidosis 3. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_167-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_167-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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