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Genetic and Rare Diseases Information Center (GARD)

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Metachromatic leukodystrophy


Other Names for this Disease

  • ARSA deficiency
  • Arylsulfatase A deficiency
  • Cerebral sclerosis diffuse metachromatic form
  • Cerebroside sulfatase deficiency
  • Leukodystrophy metachromatic
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Overview

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.[1]

Last updated: 9/19/2014

References

  1. Metachromatic leukodystrophy. Genetics Home Reference. February 2013; http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy. Accessed 9/19/2014.
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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 Metachromatic leukodystrophy. Click on the link to view a sample search on this topic.

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Other Names for this Disease
  • ARSA deficiency
  • Arylsulfatase A deficiency
  • Cerebral sclerosis diffuse metachromatic form
  • Cerebroside sulfatase deficiency
  • Leukodystrophy metachromatic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.