Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

GM1 gangliosidosis type 3


Other Names for this Disease

  • Adult GM1 gangliosidosis
  • Beta-galactosidase deficiency type 3
  • Gangliosidosis generalized GM1 chronic type
  • Gangliosidosis GM1 type 3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. The three types include: classic infantile (type 1), juvenile (type 2), and adult onset or chronic (type 3). Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types. This condition is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 4/3/2012

References

  1. GM1 gangliosidosis. Genetics Home Reference. July 2010; http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis. Accessed 4/3/2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on GM1 gangliosidosis type 3 have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss GM1 gangliosidosis type 3. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Adult GM1 gangliosidosis
  • Beta-galactosidase deficiency type 3
  • Gangliosidosis generalized GM1 chronic type
  • Gangliosidosis GM1 type 3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.