
Clinical & Diagnosis
This section contains pages on adrenoleukodystrophy facts, newborn screening, clinical presentations and educational videos and webinars.
Read moreThe information platform to all aspects of adrenoleukodystrophy and the worldwide registry for ABCD1 mutations
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 >890 unique disease-causing ABCD1 mutations as well as benign variants.
This section contains pages on adrenoleukodystrophy facts, newborn screening, clinical presentations and educational videos and webinars.
Read moreRead about treatment options for adrenoleukodystrophy, adrenal insufficiency, hematopoietic stem cell transplantation, gene therapy, etc.
Read moreThis section contains the ALD Mutation Database, info on the underlying genetics and biochemistry, etc.
Read moreThe 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...
Read MoreBaltimore, 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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