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: 22 Sep 2015

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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: 22 Sep 2015

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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.

http://www.ismrd.org

Last Updated: 11 Dec 2012

View Details

 

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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 43 free, full-text research articles on human participants. First 3 results:

Pressure for drug development in lysosomal storage disorders - a quantitative analysis thirty years beyond the US orphan drug act.
 

Author(s): Konstantin Mechler, William K Mountford, Georg F Hoffmann, Markus Ries

Journal:

 

Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a complex multisystemic phenotype of high morbidity often associated with premature ...

Last Updated: 21 Apr 2015

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Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.
 

Author(s): S Kano, M Yuan, R A Cardarelli, G Maegawa, N Higurashi, M Gaval-Cruz, A M Wilson, C Tristan, M A Kondo, Y Chen, M Koga, C Obie, K Ishizuka, S Seshadri, R Srivastava, T A Kato, Y Horiuchi, T W Sedlak, Y Lee, J L Rapoport, S Hirose, H Okano, D Valle, P O'Donnell, A Sawa, M Kai

Journal: Curr. Mol. Med.. 2015 ;15(2):138-45.

 

Methodologies for generating functional neuronal cells directly from human fibroblasts [induced neuronal (iN) cells] have been recently developed, but the research so far has only focused on technical refinements or recapitulation of known pathological phenotypes. A critical question ...

Last Updated: 2 Apr 2015

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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
 

Author(s): Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho

Journal:

 

With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including ...

Last Updated: 3 Jun 2014

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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 37 free, full-text review articles on human participants. First 3 results:

Anderson-Fabry disease and other lysosomal storage disorders.
 

Author(s): Sherif F Nagueh

Journal: Circulation. 2014 Sep;130(13):1081-90.

 

Last Updated: 23 Sep 2014

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Impairment of homeostasis in lysosomal storage disorders.
 

Author(s): Laura Segatori

Journal: IUBMB Life. 2014 Jul;66(7):472-7.

 

Lysosomal storage disorders (LSDs) are inherited metabolic diseases caused by deficiencies in lysosomal proteins, which result in accumulation of undegraded metabolites and disruption of lysosomal proteostasis. Despite significant progress in the molecular genetics and biochemistry ...

Last Updated: 20 Aug 2014

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Gene therapy for the neurological manifestations in lysosomal storage disorders.
 

Author(s): Seng H Cheng

Journal: J. Lipid Res.. 2014 Sep;55(9):1827-38.

 

Over the past several years, considerable progress has been made in the development of gene therapy as a therapeutic strategy for a variety of inherited metabolic diseases, including neuropathic lysosomal storage disorders (LSDs). The premise of gene therapy for this group of diseases ...

Last Updated: 29 Aug 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Investigating Lysosomal Storage Diseases in Minority Groups
 

Status: Recruiting

Condition Summary: Lysosomal Storage Disorders; Gaucher Disease; Fabry Disease; Pompe Disease; Niemann-Pick Disease

 

Last Updated: 4 Sep 2015

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Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
 

Status: Recruiting

Condition Summary: Lysosomal Storage Disorders

 

Last Updated: 19 May 2015

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Biomarker for Pompe Disease
 

Status: Recruiting

Condition Summary: Lysosomal Storage Diseases; Pompe Disease

 

Last Updated: 10 Nov 2015

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