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Lysosomal Storage Disorders

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Joe T.R. Clarke, MD, PhD, Director of the Genetic Metabolic Disease Program at The Hospital for Sick Children in Toronto for assistance in the preparation of this report.

Synonyms of Lysosomal Storage Disorders

  • No synonyms found.

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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. While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases.

Organizations related to Lysosomal Storage Disorders

NORD provides referrals to many patient organizations dealing with specific lysosomal storage diseases. Please see our reports on the specific topics for those organizations. The following organizations offer general information on lysosomal storage diseases.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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