Lysosomal Disorders

Common Name(s)

Lysosomal Disorders

Lysosomal disorders may refer to any of about 50 different genetically inherited, metabolic conditions caused by defects in lysosomal function.

The lysosomes are small sacs of enzymes that are found in each of the cells of our bodies and are responsible for digesting and recycling nutrients in the cell. Lysosomal disorders are often the result of one missing, deficient, or defective enzyme. Each of the enzymes within the lysosomes is critical for breaking down these nutrients, and if one is missing or not working effectively, the lysosome cannot function properly. The undigested products then build up, and may eventually kill the cell. Because many different conditions are classified as lysosomal disorders, the symptoms, diagnostic process, and treatment all vary. However, some potential symptoms may include developmental or mental delay, seizures, dementia, deafness, and blindness. Diagnosis often includes an enzyme assay to determine the level of enzyme function along with genetic testing in some disorders. Treatment often involves some form of enzyme replacement therapy in attempt to restore the defective or deficient enzyme. Bone marrow transplant is also a possibility in some cases.

Each individual type of lysosomal storage disorder is rare, however as a whole, they affect approximately 1 in 7,700 births making them a significant health issue. All forms are progressive, which means they worsen over time; however, the rate of progression, the severity of symptoms, and the organs in which they affect vary greatly amongst them. Almost all lysosomal disorders are inherited in an autosomal recessive manner except a few (Fabry disease and Hunter syndrome) that are inherited as X-linked disorders. A genetic counselor can help provide a better understanding of the underlying genetic causes and recurrence risks.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lysosomal Disorders" for support, advocacy or research.

Hide And Seek Foundation for Lysosomal Disease

We are a foundation dedicated to raising awareness and funds for research to treat, cure and prevent Lysosomal Disease as a whole.

Last Updated: 8 Feb 2010

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Lysosomal Diseases New Zealand

Our mission is to improve contacts, information and support for affected people and their families, to support research into the causes and potential treatments, and improve clinical care for individuals affected with lysosomal diseases.

Last Updated: 7 Jul 2014

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MLD Foundation

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy. We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill. The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

Last Updated: 13 Oct 2017

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The International Society for Mannosidosis and Related Diseases

ISMRD is the leading advocate for families worldwide affected by a Glycoprotein & Related Storage Disease. Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases and to enable a network of support and information.

Last Updated: 11 Dec 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lysosomal Disorders" for support, advocacy or research.

Hide And Seek Foundation for Lysosomal Disease

We are a foundation dedicated to raising awareness and funds for research to treat, cure and prevent Lysosomal Disease as a whole.

http://www.hideandseek.org

Last Updated: 8 Feb 2010

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Lysosomal Diseases New Zealand

Our mission is to improve contacts, information and support for affected people and their families, to support research into the causes and potential treatments, and improve clinical care for individuals affected with lysosomal diseases.

http://www.ldnz.org.nz

Last Updated: 7 Jul 2014

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MLD Foundation

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy. We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill. The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

http://www.MLDfoundation.org

Last Updated: 13 Oct 2017

View Details
The International Society for Mannosidosis and Related Diseases

ISMRD is the leading advocate for families worldwide affected by a Glycoprotein & Related Storage Disease. Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases and to enable a network of support and information.

http://www.ismrd.org

Last Updated: 11 Dec 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lysosomal Disorders" returned 47 free, full-text research articles on human participants. First 3 results:

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.
 

Author(s): Silvia Tortorelli, Coleman T Turgeon, Dimitar K Gavrilov, Devin Oglesbee, Kimiyo M Raymond, Piero Rinaldo, Dietrich Matern

Journal: Clin. Chem.. 2016 Sep;62(9):1248-54.

 

Newborn screening for lysosomal storage disorders (LSD) has revealed that late-onset variants of these conditions are unexpectedly frequent and therefore may evade diagnosis. We developed an efficient and cost-effective multiplex assay to diagnose six LSDs and several peroxisomal ...

Last Updated: 31 Dec 1969

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Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.
 

Author(s): Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Mahesh Kamate, Heli Shah, Chaitanya Datar

Journal: Indian Pediatr. 2015 Dec;52(12):1029-33.

 

To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes.

Last Updated: 31 Dec 1969

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Lysosomal Storage Disorders: Present and Future.
 

Author(s): Shubha R Phadke

Journal: Indian Pediatr. 2015 Dec;52(12):1025-6.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lysosomal Disorders" returned 45 free, full-text review articles on human participants. First 3 results:

Induced pluripotent stem cell models of lysosomal storage disorders.
 

Author(s): Daniel K Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky

Journal: Dis Model Mech. 2017 Jun;10(6):691-704.

 

Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology. Patient-derived iPSC models have been generated ...

Last Updated: 31 Dec 1969

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Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.
 

Author(s): Maria Francisca Coutinho, Juliana Inês Santos, Sandra Alves

Journal:

 

Lysosomal storage diseases (LSDs) are a group of rare, life-threatening genetic disorders, usually caused by a dysfunction in one of the many enzymes responsible for intralysosomal digestion. Even though no cure is available for any LSD, a few treatment strategies do exist. Traditionally, ...

Last Updated: 31 Dec 1969

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Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.
 

Author(s): Daniel J Colacurcio, Ralph A Nixon

Journal: Ageing Res. Rev.. 2016 Dec;32():75-88.

 

Autophagy and endocytosis deliver unneeded cellular materials to lysosomes for degradation. Beyond processing cellular waste, lysosomes release metabolites and ions that serve signaling and nutrient sensing roles, linking the functions of the lysosome to various pathways for intracellular ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
 

Status: Recruiting

Condition Summary: Lysosomal Storage Disorders

 

Last Updated: 27 Sep 2016

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Biomarker for Pompe Disease
 

Status: Recruiting

Condition Summary: Lysosomal Storage Diseases; Pompe Disease

 

Last Updated: 3 May 2017

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Biomarker for Krabbe Disease
 

Status: Recruiting

Condition Summary: Lysosomal Storage Diseases; Krabbe Disease

 

Last Updated: 5 Feb 2018

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