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 on ALD” page.

Adrenoleukodystrophy is caused by pathogenic variants in the ABCD1 gene. The ABCD1 Variant Database, available since 1999, is a publicly accessible database that currently catalogs >1220 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.

Treatment options

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

Clinical & Diagnosis

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

Variants & Biochemistry

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