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March 16th, 2013 |

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.
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 links to X-ALD patient organizations, and
4. Help with contacting and finding (local) X-ALD health care professionals.

New or updated pages:

• Aceite de Lorenzo (Español),
• Guía para el asesoramiento (Español),
• Origin and Metabolism of VLCFA,
• Biochemical defect in X-ALD,
• Guidelines for management,
• Mutations in ABCD1 (updated),
• Mutations and Stability (updated),
• Fakten zur X-ALD (Deutsch),
• Klinische Bilder (Deutsch),
• Sehr langkettige Fettsäuren (Deutsch),
• Hematopoietic stem cell transplantation (HSCT) and Cerebral ALD,
• Presentaciones clínicas (Español),
• Genética y Asesoramiento (Español),

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.