Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth prevalence of 1 in 15.000 newborns. Adrenoleukodystrophy is a progressive metabolic disorder that affects brain, spinal cord, peripheral nerves, adrenal cortex and testis. For a comprehensive summary and video, please visit the “facts on adrenoleukodystrophy” page.
Adrenoleukodystrophy is caused by mutations in the ABCD1 gene. Since the identification of the ABCD1 gene in 1993, more than 800 unique disease-causing mutations have been identified. Published (and unpublished) adrenoleukodystrophy mutations, as well as benign variants, are collected in the ALD Mutation Database.

Mutations & Biochemistry

A catalogue of the >800 unique mutations and variations in the ABCD1 gene; info on biochemistry, the ALD gene, etc.

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Clinical & Diagnosis

Read posts on different clinical presentations of ALD in males and females, newborn screening and watch educational videos and webinars.

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Treatment options

Read about treatment options for adrenal insufficiency, about hematopoietic stem cell transplantation, gene therapy, Lorenzo’s oil and lovastatin.

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Hugo Moser

Hugo Moser, Neurologist World-Renowned for his Relentless Fight Against ALD Researcher Leaves Legacy of Hope for Families with ALD (October 4, 1924 – January 20, 2007) Baltimore, MD – Hugo...

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On Twitter

Follow the ALD database on twitter to keep up-to-date with the latest news and other interesting facts related to ALD. Or read our latest tweets below.

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