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April 21st, 2017 |

Adrenoleukodystrophy Database

X-linked adrenoleukodystrophy (ALD) is the most frequent inherited disorder of the central nervous system white matter with a minimum incidence of 1 in 14.000 newborns. It is a progressive, neurometabolic disease that affects brain, spinal cord, peripheral nerves, adrenal cortex and testis. The disease is caused by mutations in the ABCD1 gene. More than 750 unique mutations have been identified. For a comprehensive summary, please visit the Facts on ALD page.

The ALD database was initiated in July 1999 by Hugo W. Moser, M.D. and Stephan Kemp, Ph.D.
The primary aims of the database are:

  1. Catalogue mutations and variations in the ABCD1 gene,
  2. Facilitate the analysis and interpretation of mutations and variations in the ABCD1 gene,
  3. Provide background information on ALD,
  4. Provide links to ALD patient organizations, and
  5. Help with contacting and finding (local) ALD health care professionals.

New or updated pages:

 

The ALD database is a collaboration between the Peroxisomal Diseases Laboratory at the Kennedy Krieger Institute, Baltimore MD, USA and the Laboratory Genetic Metabolic Diseases at the Academic Medical Center / Emma Children’s Hospital, Amsterdam, the Netherlands.

We thank the Netherlands ALD Patient Organization for financial support.

Kennedy Krieger Institute

Academic Medical Center

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