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Lysosomal Storage Disease

Get the facts on Lysosomal Storage Disease treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Lysosomal Storage Disease prevention, screening, research, statistics and other Lysosomal Storage Disease related topics. We answer all your qestions about Lysosomal Storage Disease.

Question: imagine that you are a pediatrician and one of your patient is a newborn who may have a lysosomal storage dise? disease. You remove some cells from the patient and examine them under the microscope. What would expect to see? Design a series of tests that reveal whether the patient is indeed suffering from a lysosomal storage disease.

Answer: Well you'd expect to see swollen cells with eccentric nuclei filled with the substance that is over-stored in the particular type of lysosomal storage disease present. However, you would have to have the right type of cells where the storage is occurring (again, the "right" type will depend on the specific disease). Finally, a pediatrician would rarely be the one obtaining the cells and would almost never be the one looking at the cells under the microscope. The one obtaining the cells would often be a consultant taking a biopsy and the one looking under the scope would be a pathologist. That being said, a link to a picture is attached and you can get a lot more pictures if you Google: lysosomal storage disease histology


Lysosomal Storage Disease News

'Early diagnosis can save patients with genetic disorders'

New York Daily News
The workshop was conducted by the Lysosomal Storage Disorders Support Society (LSDSS) at the Maulana Azad Medical College to spread awareness about the rare disease. MPS is a group of genetic conditions wherein the absence or deficiency of an enzyme ...
 

Stand raises awareness of MPS

McPherson Sentinel
MPS is a rare genetic lysosomal storage disease caused by the body's inability to produce specific enzymes. This prevents a proper recycling process, resulting in progressive damage throughout the body, including the heart, bones, joints, ...
 

Angiochem Announces Presentations at Three Upcoming Conferences

MarketWatch (press release)
Angiochem is developing a focused product pipeline, including small molecules and biologics, for the potential treatment of a wide range of CNS diseases, including brain cancer, neurodegenerative and lysosomal storage diseases, pain, and others.
 

Synageva BioPharma Reports First Quarter 2012 Financial Results

MarketWatch (press release)
SBC-102 is being developed as an enzyme replacement therapy for Lysosomal Acid Lipase (LAL) Deficiency, a lysosomal storage disorder (LSD), and is a recombinant form of the human LAL enzyme. SBC-102 is currently being evaluated in global clinical ...
 

Amicus Therapeutics Announces First Quarter 2012 Financial Results

MarketWatch (press release)
In addition to the ongoing work in Fabry, Amicus is investigating chaperone-ERT combinations as potential next-generation treatments for Pompe, Gaucher, and other undisclosed lysosomal storage diseases where the Company believes there are significant ...
 

'Early diagnosis can save patients with genetic disorders'

Newstrack India
The workshop was conducted by the Lysosomal Storage Disorders Support Society (LSDSS) at the Maulana Azad Medical College to spread awareness about the rare disease. MPS is a group of genetic conditions wherein the absence or deficiency of an enzyme ...
 

Daily Mail

Although solutions to unusual diseases are rare, some therapies hold hope
Daily Mail
 

Amicus Therapeutics Announces First Quarter 2012 Financial Results

GlobeNewsWire (press release)
In addition to the ongoing work in Fabry, Amicus is investigating chaperone-ERT combinations as potential next-generation treatments for Pompe, Gaucher, and other undisclosed lysosomal storage diseases where the Company believes there are significant ...
 

Synageva BioPharma to Present at the Bank of America Merrill Lynch 2012 Health ...

EON: Enhanced Online News (press release)
SBC-102 is being developed as an enzyme replacement therapy for Lysosomal Acid Lipase (LAL) Deficiency, a lysosomal storage disorder (LSD), and is a recombinant form of the human LAL enzyme. SBC-102 is currently being evaluated in global clinical ...
 

'Even docs misdiagnose rare disease MPS'

Deccan Herald
In many cases, they attribute the problem to other disorders, resulting in crucial delay in diagnosis and treatment of patients.? Experts at the workshop, organised by the Lysosomal Storage Disorders Support Society, said early diagnosis is crucial and ...