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 designated pseudo-Hurler polydystrophy as mucolipidosis III because of Hurler-like features and vacuolated bone marrow cells (Kelly et al. 1975b).
Synonyms and Related Disorders
Pseudo-Hurler Polydystrophy
Genetics/Basic Defects
- 1.
Inheritance: autosomal recessive
- 2.
Basic defect
- a.
Resulting from deficiency of the enzyme UDP-N-acetylglucosamine: lysosomal protein precursor N-acetyl glucosamine 1-phosphate transferase (G1cNAcPT) (Mucolipidosis II also caused by deficiency of the same enzyme)
- b.
Genetic complementation analysis of cultured fibroblasts derived from patients with mucolipidosis III identified complementation groups A, B, and C.
- c.
Inability to form the correct recognition marker on lysosomal...
- a.
This is a preview of subscription content, log in via an institution to check access.
References
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.
Cathey, S., Friez, M., Wood, T., et al. (2007). Exploring mucolipidosis II and III. Molecular Genetics and Metabolism, 90, 240.
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.
Freisinger, P., Padovani, J. C., & Maroteaux, P. (1992). An atypical form of mucolipidosis III. Journal of Medical Genetics, 29, 834–836.
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.
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.
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.
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.
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.
Leroy, J. G., Cathey, S., & Friez, M. J. (2009). Mucolipidosis III alpha/beta. GeneReviews. Updated July 7, 2009. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ml3a
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.
Maroteaux, P., & Lamy, M. (1966). La pseudo-polydystrophie de Hurler. Presse Médicale, 74, 2889–2892.
Melhem, R., Dorst, J. P., Scott, C. I., Jr., et al. (1973). Roentgen findings in mucolipidosis III (pseudo-Hurler polydystrophy). Radiology, 106, 153–160.
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.
Raas-Rothchild, A., & Spiegel, R. (2010). Mucolipidosis III gamma. GeneReviews. Updated January 28, 2010. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ml3c
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.
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.
Robinow, M. (1974). Mucolipidosis III. Birth Defects Original Article Series, 10, 267–273.
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.
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.
Spranger, J. W., & Wiedemann, H. R. (1970). The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik, 9, 113–139.
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.
Traboulsi, E. I., & Maumenee, I. H. (1986). Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). American Journal of Ophthalmology, 102, 592–597.
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.
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.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer Science+Business Media, LLC
About this entry
Cite this entry
(2012). Mucolipidosis III. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_167
Download citation
DOI: https://doi.org/10.1007/978-1-4614-1037-9_167
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-1036-2
Online ISBN: 978-1-4614-1037-9
eBook Packages: Biomedical and Life SciencesReference Module Biomedical and Life Sciences