Lysosomal Storage Disorders

Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases

In the past few years, new ‘players’ have emerged in the field of lysosome biology that point to novel pathways and mechanisms that may strongly influence the ability of cells to cope with increasing lysosomal storage and so might help to shed new light on some of the unsolved mysteries surrounding LSDs.

The rapidly evolving view of lysosomal storage diseases

Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex molecules and cellular structures.

What Are Lysosomal Storage Diseases and Disorders?

All LSDs except Hunter syndrome (MPS II) and Fabry disease are autosomal recessive disorders. This means both parents must carry the abnormal gene that prevents the body from making an enzyme with normal activity.

Lysosomal storage disorders - 1 in 5,000

These disorders involve the build-up of toxic material inside a part of the cell called the lysosome. The lysosome is involved in waste degradation and recycling; usually, the material is broken down and recycled by enzymes inside the lysosome. Lysosomal storage disorders arise due to a deficiency of one of the many enzymes that work in this part of the cell.

Lysosomal Storage Disorders in the Newborn

These relatively rare disorders are seldom considered when evaluating a sick newborn. A significant number of the >50 different lysosomal storage disorders, however, do manifest in the neonatal period and should be part of the differential diagnosis of several perinatal phenotypes.

Overview of Lysosomal Storage Diseases

Lysosomal storage diseases are a group of metabolic disorders caused by genetic mutations in the enzymes responsible for normal lysosomal function. The dysfunction of enzymatic processes causes an accumulation of undigested metabolites, resulting in cellular death. The main groups of lysosomal storage diseases include sphingolipidoses, oligosaccharidoses, and mucolipidoses.

Pediatric Lysosomal Storage Disorders

Lysosomes are sacs inside cells, containing enzymes that metabolize (break down) excess sugars and lipids (fats) into substances that cells can use. When lysosomes don’t work properly, these sugars and fats build up in the cell instead of being used or excreted. Lysosomal storage diseases are rare, but can lead to death if untreated.

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.