Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is an inherited metabolic disease that affects brain, spinal cord and adrenals.
ALD info provides information on all aspects of ALD written and maintained by ALD researchers and physicians.
The main language is English, but translations are available in Español, Deutch, Français, or Nederlands (see the Sitemap for a quick overview).
For a comprehensive summary and video, please visit the “Facts on ALD” page.
Adrenoleukodystrophy is caused by mutations in the ABCD1 gene. The ALD Mutation Database catalogs >840 unique disease-causing ABCD1 mutations as well as benign variants.

Mutations & Biochemistry

This section contains the ALD Mutation Database, info on the underlying genetics and biochemistry, etc.

Clinical & Diagnosis

This section contains pages on adrenoleukodystrophy facts, newborn screening, clinical presentations and educational videos and webinars.

Treatment options

Read about treatment options for adrenoleukodystrophy, adrenal insufficiency, hematopoietic stem cell transplantation, gene therapy, etc.

The ALD Mutation Database

The ALD Mutation Database reports all mutations and variations conform to the nomenclature recommended by the Human Genome Variation Society. All mutations and variants, including those already published, are annotated...

Hugo Moser

Baltimore, MD – Hugo W. Moser, recognized throughout the world for his research on genetic disorders that affect nervous system function in children, passed away on Saturday, January 20th 2007...