eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases
Mucopolysaccharidosis Type III: Multimedia
Updated: May 14, 2009
Multimedia
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| Overview: Mucopolysaccharidosis Type III |
| Differential Diagnoses & Workup: Mucopolysaccharidosis Type III |
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| Follow-up: Mucopolysaccharidosis Type III |
Multimedia: Mucopolysaccharidosis Type III |
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References
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Vitry S, Ausseil J, Hocquemiller M, Bigou S, Dos Santos Coura R, Heard JM. Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB. Mol Cell Neurosci. May 2009;41(1):8-18. [Medline].
Ohmi K, Kudo LC, Ryazantsev S, Zhao HZ, Karsten SL, Neufeld EF. Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy. Proc Natl Acad Sci U S A. May 5 2009;[Medline].
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Blanch L, Weber B, Guo XH, et al. Molecular defects in Sanfilippo syndrome type A. Hum Mol Genet. May 1997;6(5):787-91. [Medline].
Kleijer WJ, Karpova EA, Geilen GC, et al. Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay. Prenat Diagn. Sep 1996;16(9):829-35. [Medline].
Man TT, Tsai PS, Rau RH, et al. Children with mucopolysaccharidoses--three cases report. Acta Anaesthesiol Sin. Jun 1999;37(2):93-6. [Medline].
Connor JM, Emery AE, Rimoin DL, Pyeritz RE, eds. Emery and Rimoin's Principle and Practice of Medical Genetics. 3rd ed. New York, NY: Churchill Livingstone; 1996.
Fensom AH, Benson PF. Recent advances in the prenatal diagnosis of the mucopolysaccharidoses. Prenat Diagn. Jan 1994;14(1):1-12. [Medline].
Jablonski S. Jablonski's Dictionary of Syndromes and Eponymic Diseases. 2nd ed. Melbourne, FL: Krieger Publishing Co; 1991.
Jones KL. Storage disorders. In: Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, Pennsylvania: WB Saunders Company; 1997:464-5.
Kakkis E, Wraith E. Clinical features and diagnosis of the mucopolysaccharidoses. UpToDate. Available at http://www.utdol.com. Accessed November 6, 2007.
Lindor NM, Hoffman A, O'Brien JF, Hanson NP, Thompson JN. Sanfilippo syndrome type A in two adult sibs. Am J Med Genet. Nov 15 1994;53(3):241-4. [Medline].
Mucopolysaccharidosis III (MPS III) Disease (Sanfilippo Syndrome). Genzyme Corporation. Available at www.lysosomallearning.com/healthcare/about/lsd_hc_abt_mps3. Accessed 04/01/2009.
Mucopolysaccharidosis Type III. National Organization for Rare Disorders, Inc. Available at http://www.rarediseases.org. Accessed 03/31/2009.
National Center for Biotechnology Information. Mucopolysaccharidosis Type IIIA, IIIB, IIIC, and IIID. Online Mendelian Inheritance in Man. Available at http://www.ncbi.nlm.nih.gov. Accessed April 1, 2009.
National Institutes of Health. Mucopolysaccharidosis Type III (Sanfilippo Syndrome). GeneTests. Available at http://www.geneclinics.org. Accessed 03/31/2009.
Scriver CR, Beaudet AL, Sly WL, et al. The Metabolic Basis of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995.
Spitz JL. Genodermatoses. In: A Full Color Clinical Guide to Genetic Skin Disorders. Baltimore, Md: Williams and Wilkins; 1995.
Sutton VR. Presenting features of inborn errors of metabolism. UpToDate. Available at www.utdol.com. Accessed November 6, 2007.
Therapeutic Approaches. Alliance Sanfilippo. Available at http://www.alliancesanfilippo.com/us/approaches.php. Accessed 04/01/2009.
Thoene JG, ed. Physician's Guide to Rare Diseases. 2nd ed. Montvale, NJ: Dowden Publishing Co; 1995.
Toone JR, Applegarth DA. Carrier detection in Sanfilippo A syndrome. Clin Genet. Jun 1988;33(6):401-3. [Medline].
van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet. Aug 1981;20(2):152-60. [Medline].
Further Reading
The American Academy of Pediatrics have established the following relevant clinical guidelines: Hearing assessment in infants and children: recommendations beyond neonatal screening.
Keywords
mucopolysaccharidosis, MPS, MPS III, mucopolysaccharide storage disease type III, Sanfilippo syndrome, Sanfilippo disease, MPS IIIA, Sanfilippo A, MPS IIIB, Sanfilippo B, MPS IIIC, Sanfilippo C, MPS IIID, Sanfilippo D, lysosomal storage disorders, heparan sulfate, clear corneas, dysostosis multiplex, mucopolysaccharides, glycosaminoglycans, GAGs, lysosomal storage disorder, cardiovascular functional impairments, hepatosplenomegaly, dysostosis multiplex, mental retardation, Hurler syndrome, Hunter syndrome, Sanfilippo syndrome, organomegaly, diarrhea, respiratory compromise, airway obstruction, upper respiratory tract infections, synophrys, clear corneas, splenomegaly, inguinal hernia, umbilical hernia, enzyme replacement therapy, ERT, treatment, diagnosis


Multimedia: Mucopolysaccharidosis Type III