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.
Translations are available in Español, Deutch, Français, or Nederlands (see the Sitemap). For a comprehensive summary and video, please visit the “Facts on ALD” page.
Adrenoleukodystrophy is caused by pathogenic variants in the ABCD1 gene. The ABCD1 Variant Database catalogs >1040 unique ABCD1 variants.
To read about the utility of the database as a scientific, clinical, and ALD-community-wide resource, please read our open access publication.

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.

Variants & Biochemistry

This section contains the ABCD1 Variant Database, info on the underlying genetics and biochemistry, etc.

The ABCD1 Variant Database

The ABCD1 Variant Database reports all variants conform to the nomenclature recommended by the Human Genome Variation Society. All variants, including those already published, are annotated using the “Alamut Visual”...

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...