
Contents
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Synonyms and Definition Synonyms and Definition
-
Neurobiology (Scientific Fundamentals) Neurobiology (Scientific Fundamentals)
-
Disease Pathology Disease Pathology
-
Genetic Basis of Disease Genetic Basis of Disease
-
Molecular Pathogenesis Molecular Pathogenesis
-
Relevant Disease Models Relevant Disease Models
-
-
Clinical Presentation Clinical Presentation
-
Symptoms and Clinical Course Symptoms and Clinical Course
-
Physical Examination Physical Examination
-
Radiological Studies Radiological Studies
-
Other Diagnostic Modalities Other Diagnostic Modalities
-
-
Laboratory Test Laboratory Test
-
Strategies for Diagnosis Strategies for Diagnosis
-
-
Differential Diagnosis Differential Diagnosis
-
Management and Treatment Management and Treatment
-
Future Directions Future Directions
-
References References
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
68 Lysosomal Storage Disorders
Get access-
Published:August 2016
Cite
Abstract
The lysosomal storage disorders (LSDs) are a group of inborn organelle disorders, clinically heterogeneous, and biochemically characterized by accumulation of nondegraded macromolecules primarily in the lysosomal and other cellular compartments. Given the common and essential cellular function of the lysosomal system in different organs and systems, patients afflicted with these disorders present a broad range of clinical problems, including neurological problems, visceromegaly, and skeletal deformities. Onset of symptoms may range from fetal period to adulthood. The neurological problems include developmental delay, seizures, acroparesthesia, motor weakness, muscle wasting, behavioral/psychiatric disturbances, cerebrovascular ischemic events, and extrapyramidal signs. Patients may present with symptoms later that include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Most of LSDs are autosomal recessive; however, a few are X-linked with symptpmatic female carriers (e.g., Fabry disease). In most of them, the diagnosis is established by biochemical and/or molecular assays. In terms of management, disease-modifying therapies include enzyme replacement, hematopoietic stem cell transplantation, and substrate reduction therapy. Patients and their families require genetic counseling regarding reproductive risks, disease prognosis, and therapeutic options. Investigations of disease molecular mechanisms provide insights into potential targets for the development of therapeutic strategies. Supportive care has been the key and essential for most LSDs, resulting in substantial improvement in quality of life of patients and families.
Sign in
Personal account
- Sign in with email/username & password
- Get email alerts
- Save searches
- Purchase content
- Activate your purchase/trial code
- Add your ORCID iD
Purchase
Our books are available by subscription or purchase to libraries and institutions.
Purchasing informationMonth: | Total Views: |
---|---|
October 2022 | 3 |
December 2022 | 3 |
January 2023 | 2 |
February 2023 | 4 |
March 2023 | 4 |
April 2023 | 1 |
May 2023 | 1 |
June 2023 | 3 |
July 2023 | 2 |
August 2023 | 2 |
September 2023 | 2 |
October 2023 | 2 |
November 2023 | 2 |
December 2023 | 2 |
January 2024 | 2 |
February 2024 | 1 |
March 2024 | 2 |
April 2024 | 1 |
May 2024 | 4 |
June 2024 | 4 |
July 2024 | 1 |
August 2024 | 1 |
Get help with access
Institutional access
Access to content on Oxford Academic is often provided through institutional subscriptions and purchases. If you are a member of an institution with an active account, you may be able to access content in one of the following ways:
IP based access
Typically, access is provided across an institutional network to a range of IP addresses. This authentication occurs automatically, and it is not possible to sign out of an IP authenticated account.
Sign in through your institution
Choose this option to get remote access when outside your institution. Shibboleth/Open Athens technology is used to provide single sign-on between your institution’s website and Oxford Academic.
If your institution is not listed or you cannot sign in to your institution’s website, please contact your librarian or administrator.
Sign in with a library card
Enter your library card number to sign in. If you cannot sign in, please contact your librarian.
Society Members
Society member access to a journal is achieved in one of the following ways:
Sign in through society site
Many societies offer single sign-on between the society website and Oxford Academic. If you see ‘Sign in through society site’ in the sign in pane within a journal:
If you do not have a society account or have forgotten your username or password, please contact your society.
Sign in using a personal account
Some societies use Oxford Academic personal accounts to provide access to their members. See below.
Personal account
A personal account can be used to get email alerts, save searches, purchase content, and activate subscriptions.
Some societies use Oxford Academic personal accounts to provide access to their members.
Viewing your signed in accounts
Click the account icon in the top right to:
Signed in but can't access content
Oxford Academic is home to a wide variety of products. The institutional subscription may not cover the content that you are trying to access. If you believe you should have access to that content, please contact your librarian.
Institutional account management
For librarians and administrators, your personal account also provides access to institutional account management. Here you will find options to view and activate subscriptions, manage institutional settings and access options, access usage statistics, and more.