Posts Categorized: Part 16: LYSOSOMAL DISORDERS



Mouse model for mucolipidosis II.

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

  Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5221-8. Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions. Gelfman CM, Vogel P, Issa TM, Turner CA, Lee WS, Kornfeld S, Rice DS. In this paper, the authors describe a mouse model for mucolipidosis II. The mice have severe retinal degeneration, in […]



Gene therapy to prevent immune response to enzyme replacement therapy

Posted by & filed under Part 16: LYSOSOMAL DISORDERS, Treatment.

Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance Baodong Sun, Andrew Bird, Sarah P. Young, Priya S. Kishnani, Y.-T. Chen, and Dwight D. Koeberl Am. J. Hum. Genet., 81:1042-1049, 2007 In this puplication, investigators from Duke University administered an AAV encoding alpha-glucosidase(GAA) to GAA-knockout mice. This prevented the […]



Urinary screening for Fabry disease

Posted by & filed under Newborn screening, Part 06: DIAGNOSTIC APPROACHES, Part 16: LYSOSOMAL DISORDERS.

Screening for Fabry disease on urine collected by filter paper might eventually become a reality with the method referred to in this short report: Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease C. Auray-Blais, D. Cyr, K. Mills, R. Giguère and R. Drouin J Inherit Metab […]



Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

MPS IIIC was the only mucopolysaccharidosis for which the gene had not been cloned. This is no longer the case thanks to the recent identification of the causal gene by a group from Toronto, Canada. Am J Hum Genet. 2006 Oct;79(4):738-44. Epub 2006 Aug 23. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis […]



High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

Posted by & filed under Newborn screening, Part 02: PERSPECTIVES, Part 16: LYSOSOMAL DISORDERS.

Am. J. Hum. Genet., 79:000, 2006 High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, and Robert J. Desnick In this article, alpha-galactosidase A activity was assayed in newborn screening blood spots of Italian male neonates. This study revealed a […]



Lysosomal Disease Network 3rd Annual Scientific WORLD symposium

Posted by & filed under Meetings, Part 16: LYSOSOMAL DISORDERS.

Posted on behalf of Dr Chester B. Whitley: Lysosomal Disease Network 3rd Annual Scientific WORLD Symposium 2006 December 7-9, 2006 (Abstract deadline: July 1, 2006) Location Contemporary Resort at Walt Disney World, Orlando, Florida Call to make your hotel reservations: 407-824-3869. Be sure to mention the Lysosomal Disease Network WORLD Symposium for your discounted room […]



Mucolipidosis II and mucolipidosis IIIA gene

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Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. Kudo M, Brem MS, Canfield WM Am J Hum Genet. 2006 Mar;78(3):451-63. For more information on Mucolipidosis II and mucolipidosis IIIA, please visit OMMBID Chapter 138. Thank you very much in advance […]



Type 2 Gaucher disease

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Type 2 Gaucher disease: 15 new cases and review of the literature. Mignot C et al. Brain Dev. 2006 Jan;28(1):39-48 This important article extends our clinical knowledge on this entity, and summarizes previous reports. For more information on Gaucher disease, please see OMMBID Chapter 146 and OMMBID Chapter 146.1. Thank you very much in advance […]



Non-immune hydrops fetalis

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

A number of inborn errors of metabolism have been associated with hydrops fetalis, and some centers screen affected patients for lysosomal storage disease. Could you describe which screening tests you use for affected patients? To learn more about lysosomal disorders, see OMMBID Part 16: Chapters 134-154. Thank you very much for your contribution. Philippe Campeau, […]