X-linked Adrenoleukodystrophy Database

 

 

 

 

X-linked adrenoleukodystrophy (X-ALD) is the most frequent inherited disorder of the central nervous system white matter with a minimum incidence of 1 in 17.000 newborns. It is a progressive, systemic metabolic disease that affects myelin, spinal cord, peripheral nerves, adrenal cortex and testis. The disease is caused by mutations in the ABCD1 gene.

 

The X-ALD database was initiated July 1999
by Hugo W. Moser, M.D. and Stephan Kemp, Ph.D. (database editor).
The primary aims of the database are:
1) catalogue and facilitate the analysis of X-ALD mutations,
2) provide background information on X-ALD,
3) provide useful links to X-ALD patient organisations, and
4) help with contacting and finding (local) X-ALD health care professionals.

  
 


1084 mutations have been reported in the ABCD1 gene
of which 533 are unique mutations.

  
Kennedy Krieger Institute

Latest pages added or updated
Lovastatin in X-ALD (January 2010)
Lovastatine in X-ALD (January 2010)
Gene Therapy for X-ALD (November 2009)
Gentherapie voor X-ALD (November 2009)
Historical overview (November 2009: updated)
Academic Medical Center
HGVS

The X-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 X-ALD Patient Organization for financial support.

For contact, please follow this link.
Emma Children's Hospital / Children's AMC

First version: 22-Nov-1999
DHTML Menu by Milonic

visitors since September 2000

 

Last update: 21-Mei-2010