…cells, phosphatidylcholine was the major component comprising 45% of the lipid in the raft domain, whereas in the MPS cells, ceramide replaced phosphatidylcholine as the most abundant lipid comprising 35%, and reducing phosphatidylcholine to 20%. The Figure below shows the difference in the lipid composition between MPS I fibroblasts and controls. Additional changes in the raft composition included increases in the glycosphingolipids with concomitant decreases in the phospholipids. Of note was an alteration in the anionic phospholipid bis(monoacylglycero)phosphate which we have previously shown to be elevated in MPS (Meikle et…
…guides research to benefit the patient community. He is a comparative medical geneticist, with over two decades of research experience with the… See More Amber Adams, MS Communications Director Amber is a strategic communicator who has worked with a variety of non-profit and fundraising organizations throughout her career. She has had the unique opportunity to serve a wide array of communities including people who are homeless, people with… See More Vacant Director of Development Click here to learn more about this position and if you might be…
Link to purchase disposable swim diapers from My Pool Pal www.mypoolpal.com Link to Duraline Medical Products for specialty undergarments www.arktherapeutic.com Link to Adaptive Mall.com, a resource for medical equipment southpawenterprises.com Vehicle Conversion…
Adult Resource Committee The Adult Resource Committee exists to provide support for teens and adults diagnosed with MPS or ML. The group holds monthly Zoom meetings and other events throughout the year. Below you will find links to some helpful resources that are tailored specifically for this unique section of the MPS and ML community. Get Resources Support If you are interested in learning more or joining the Adult Resource Committee, please contact us at arc@mpssociety.org. If you would like to receive an Adult Road Kit, you may request…
…Europe for long-term enzyme replacement therapy in patients with a confirmed diagnosis of MPS I, to treat the non-neurological manifestations of the disease. Aldurazyme was developed by BioMarin and SanofiGenzyme under a joint venture agreement that assigns commercial manufacturing responsibilities to BioMarin, and worldwide sales and marketing responsibilities to SanofiGenzyme. Visit www.aldurazyme.com or contact SanofiGenzyme at 800-745-4447 for more information. MPS II Elaprase™ (idursulfase) is a long-term enzyme replacement therapy for patients with a confirmed diagnosis of MPS II and has been approved for use in the U.S., Canada and…
…regarding MPS and ML legislation, carefully crafted appropriations language, reaching and spreading our message to new members, collaborating with the rare disease community as a whole, advocacy training webinars, and growing and fostering relationships with key decision-makers. To join the Advocacy Committee or for more information, contact our Advocacy Chairs. Committee Co-Chairs: Stephanie Cozine Carl Kapes Action Alerts Action alerts provide essential details about proposed legislation, potential impacts on rare disease patients and research, and clear steps that you can take to make a difference. Take Action Now! Advocacy Hill…
Barbara Wedehase, MSW, CGC Beth Pletcher, MD, FAAP, FACMG Communicating hydrocephalus (increased fluid in the ventricles of the brain) is a common, but often undiagnosed, problem in individuals with MPS I, MPS II, MPS VI and MPS VII and may be associated with some cortical atrophy (loss of brain cells). Children with greater neurological involvement have a greater risk of developing hydrocephalus. Early detection and treatment of hydrocephalus is believed to improve quality of life. However, neurosurgeons are often unfamiliar with the unique aspects of diagnosing communicating hydrocephalus in MPS…
Disability is Natural www.longtermcarelink.net EParent.com www.eparent.com National Association for Home Care and Hospices www.nahc.org National Care Planning Council www.longtermcarelink.net…
…heart walls (ventricular hypertrophy) is common in MPS IV, most likely because of deposition of storage material within the heart muscle cells. Thickening of mitral and aortic valves is common. Mitral and aortic valves can develop progressive stenosis (narrowing) and/or regurgitation (leaking), although cardiac murmurs may not always be appreciated. Valve replacement has not yet been reported in Morquio Syndrome. Isolated cases of serious interruption of the heart’s conduction system (complete heart block) have been reported and these individuals required pacemakers. Cardiac ultrasound can identify abnormalities of the cardiac valves,…
…and intelligence. Mucolipidosis (ML): Term coined to denote diseases that combined clinical features common to both the mucopolysaccharidoses and the sphingolipidoses (diseases characterized by abnormal lipid or fat metabolism, affecting nerve tissue). See ML II and ML III Mucopolysaccharide: A complex carbohydrate molecule that is a common constituent of secretions and the connective tissue between cells. Although the molecules were originally called “mucopolysaccharides” because of their ability to form viscous, mucin-like solutions, the terminology was revised to “proteoglycans” and subsequently to “glycosaminoglycans” in the last decades. Mutation: A change in…
