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 pathogenic variants in the ABCD1 gene. The ALD Variant Database catalogs >940 unique pathogenic ABCD1 variants as well as benign variants.

Clinical & Diagnosis

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

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Treatment options

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

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Variants & Biochemistry

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

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The ALD Variant Database

The ALD Variant Database reports all (likely) pathogenic and benign variants conform to the nomenclature recommended by the Human Genome Variation Society. All variants, including those already published, are annotated...

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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...

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