Lysosomal Storage Disorders

What a piece of work is a lysosome! For decades, it was thought to be just a recycling organelle — the cell's rubbish bin for disposing of unwanted cellular debris - Michelle Grayson

Lysosomal Storage Disorders

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Lysosomal storage disorders

They can come on slowly in adulthood or arrive suddenly and fatally in infancy. Their symptoms can include seizures and dementia, enlargement of the spleen and liver, and abnormal bone formation. They are rare, yet vary in frequency: the most common occur once in every 50,000 or so live births, but the rarest have been seen barely a handful of times. Indeed, at first glance, there is seemingly little to connect the 50 or so lysosomal storage disorders (LSDs), except that they all involve the lysosome.

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Resources

 Lysosomal storage disorders

Much of the support for LSD research is led by foundations set up by the parents of a child with one of the disorders. Many such organizations push for the screening of newborns to identify LSDs early. Although this would seem to be a good idea, such initiatives are fraught with ethical difficulties (S162). But early detection is crucial if a person with an LSD is to have any chance of living a normal life.

Lysosomal Disease Network

Dedicated to improving the lives of those directly affected by lysosomal disease.

Lysosomal Research Center

We are a 501(c)(3) non-profit organization and our mission is to provide high quality care for individuals with lysosomal storage diseases and other rare disorders by utilizing a variety of clinical treatment and research protocols, conduct training programs to increase awareness and to offer compassionate care and platform for the families affected by these debilitating disorders.

Lysosomal Storage Disorders Support Society

Established in 2010, LSDSS is India's first and leading patient advocacy group working for patients affected by Lysosomal Storage Disorders (LSDs) like Gaucher Disease, Pompe Disease, Fabry Disease, Mucopolysaccharidosis (MPS), Niemann-Pick Disease...

Foundation of Caring Lysosomal Storage Disorder Program

The Foundation of Caring Lysosomal Storage Disorder Program at CHOC is a unique multidisciplinary and comprehensive program for the diagnosis and treatment of children and teens with lysosomal storage disorders (LSD).

Lysosomal Storage Disease Research Consortium

Leading the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1 and Sandhoff diseases.

Association for Glycogen Storage Disease

This website provides basic information about the glycogen storage diseases. The information is intended to be of use to people affected by one of the glycogen storage diseases, their families, and other interested parties.

Canadian Society for Mucopolysaccharide and Related Diseases

The Canadian Society for Mucopolysaccharide and Related Diseases Inc. (The Canadian MPS Society), founded in 1984, serves all Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research.

Cure Sanfilippo Syndrome

To advocate for and fund research directed towards a cure and treatment options for patients with Sanfilippo Syndrome.

Fabry Support & Information Group

It is the mission of the Fabry Support & Information Group (FSIG) to raise awareness of Fabry disease and its symptoms, to advocate for community needs and to lead the fight for the most effective treatment possible and eventually a cure.

Hunter’s Hope Foundation

Hunter’s Hope Foundation was established to address the acute need for information and research with respect to Krabbe Disease and related Leukodystrophies

National Gaucher Foundation

We empower Gaucher patients through financial support, educational programming, patient services, and collaboration with medical professionals.

National MPS Society

The National MPS Society exists to cure, support and advocate for MPS and ML.

PodcastDx

Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system.

Team Sanfilippo Foundation

Team Sanfilippo is dedicated to provide assistance to families to gain access to clinical trials, treatments and compassionate use. We help coordinate necessary genetic testing required for families to participate in clinical trials or treatments.

United Pompe Foundation

The United Pompe Foundation was formed to assist patients and/or their families with medical costs and other expenses that these patients and families face and may not be able to cover, or fully cover, through their insurance.

NORD

Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. New lysosomal storage disorders continue to be identified.

StatPearls

Lysosomal storage diseases (LSDs) are diseases caused by defects in single-genes. Enzyme defects cause nearly seventy percent of the LSDs, and the rest are defects in enzyme activator or associated proteins.

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