Lysosomal Disease (LD) is a group of approximately 50 rare inherited metabolic storage disorders that result from a malfunction in a specific portion in the body's cells – the lysosome. Some of the forms of LD have therapies that alleviate the disease symptoms but generally they do not have a cure.
A new baby is born with a LD every 30 minutes!
"Extraordinary Measures", the Harrison Ford produced movie starring Brendan Fraser with Harrison Ford and Keri Russell, which will be released in January 2010, documents the true story of John Crowley, a parent who founded a drug company in his quest to find a cure for Pompe disease (one of the lysosomal diseases) which affects his two daughters. He founded Amicus Therapeutics and remains their President and CEO. You can learn more about Pompe disease by clicking here and using one the of the links below.
The "back story" about Duke University and Dr. Kishnani's involvement in the development of the enzyme replacement therapy, Myozyme. A bit about the filming of the movie, known back then as "The Untitled Crowley Project", around Portland Oregon. Information about Pompe research at OHSU under Dr. Steiner. This was the first time Nike allowed filming on their beautiful Beaverton, campus - they donated the location payment to Doernbecher Children’s Hospital.
Did you know ... Each LD may be rare ... however, one in every 5,000 newborn babies has Lysosomal Disease.
The lysosome is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recycling are stored in the cell. [from Wikipedia]
The forms of Lysosomal Disease are listed below followed by a discussion of their frequency.
No representations are made as to the quality or content of the information at any of the referenced independent sites.
You may wish to visit the MLD Foundation for information on metachromatic leukodystophy or the Hide & Seek Foundation for more information on Lysosomal Disease as a group.
FORMS of Lysosomal Disease sorted by the type of material stored:
Sphingolipids - Lipid Storage Disorders (number of deficiencies: 12)Mucopolysaccharides (number of deficiencies: 10)
National MPS Society ... (919) 806-0101
Glycogen (number of deficiencies: 2)
Australian Pompe’s Association
Association for Glycogen Storage Disease, United Kingdom, Phone:+011 44 730 231
Hide & Seek Foundation for Lysosomal Disease, USA
International Pompe Association (IPA) IPA secretariat: Ria Broekgaarden, Netherlands (international footprint)
United Pompe Foundation David W. Hamlin Phone: (559) 227-1898 Email: david@unitedpompe.com, California USA
Amicus Therapeutics, USA - New Jersey (international)
Oligosaccharides (number of deficiencies: 6)
Multiple compounds (number of deficiencies: 3)
Cholesterol (number of deficiencies: 3)
Amino acids/sugars (number of deficiencies: 3)
Peptides (number of deficiencies: 1)
Proteins (number of deficiencies: 5)
Frequency of Lysosomal Disease:
There is not a complete world-wide study of the frequency of Lysosomal Disease. However, a 26-year study in The Netherlands based on 963 enzymatically confirmed cases from 1970 through 1996 concluded the following:
Combined birth prevalence for all LDs is 14 per 100,000 live births.
Glycogenosis type II is the most frequent LD with a birth prevalence of 2.0 per 100,000 live births, representing 17% of all diagnosed cases.
Lipidoses -
The combined birth prevalence for all lipid storage diseases is 6.2 per 100,000 live births.
Metachromatic leukodystrophy (MLD) is the most frequent lipidoses accounting for 24% of all lipidoses with a calculated birth prevalence of 1.42 per 100,000.
Krabbe disease, diagnosed in 17% of cases, also occurs frequently with a birth prevalence of 1.35 per 100,000.
The birth prevalence of Gaucher disease is 1.16 per 100,000 for all types combined.
Mucopolysaccharidoses (MPSs) - The combined birth prevalence for all MPSs is 4.5 per 100,000 live births.
MPS I has the highest calculated birth prevalence of 1.19 per 100,000 (25% of all cases of MPS diagnosed)
MPS II is 0.67 per 100,000 (1.30 per 100,000 male live births). MPS IIIA with an estimated birth prevalence of 1.16 per 100,000.
MPS III as a group comprises 47% of all MPS cases diagnosed and the combined birth prevalence is 1.89 per 100,000 live births.
All other MPSs are rare.
Mucolipidoses and oligosaccharidoses are very rare with birth prevalence between 0.04 and 0.20 for individual diseases. Only 49 cases were diagnosed between 1970 and 1996. Their combined birth prevalence is 1.0 per 100,000 live births.
Reference: The Frequency of Lysosomal Storage Diseases in The Netherlands - Poorthuis BJ.
This page is sponsored by the world's premiere source of layman's information about MLD (metachromatic leukodystrophy), one of the two Lysosomal diseases that are also leukodystrophies (Krabbe & MLD) . Please refer to the MLD-101 page of the MLD Foundation web site for research and cure for MLD work in process.
MLD is the most common leukodystrophy.
Our slogan, "We C.A.R.E." reflects our mission of Compassion, Awareness, Research and Education for metachromatic leukodystrophy.
Donations to the MLD Foundation are tax deductible and will be used to further activities in these four areas.
The MLD Foundation is a 501 (c)(3) non-profit organization. We were formed in May 2001 to serve families affected by metachromatic leukodystrophy (MLD), a terminal genetic condition affecting people throughout the world.