Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is an inherited metabolic disorder that affects the brain, spinal cord, and adrenal glands.
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 about ALD” page.

Adrenoleukodystrophy is caused by pathogenic variants in the ABCD1 gene. The ABCD1 Variant Registry, available since 1999, is a publicly accessible registry that currently catalogs >1225 unique ABCD1 variants.
To learn more about the utility of the database as a scientific, clinical, and ALD community-wide resource, please read our Open Access publication.

Variants & Biochemistry

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

Clinical & Diagnosis

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

Treatment options

This section includes pages about treatment options for adrenoleukodystrophy, adrenal insufficiency, hematopoietic stem cell transplantation, gene therapy, etc.

Variants of Uncertain Significance

Babies with adrenoleukodystrophy (ALD) are neurologically normal at birth. Boys with ALD are at risk of developing adrenal insufficiency and/or inflammatory demyelinating brain lesions (cerebral ALD). Newborn screening has revolutionized...

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...