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Adrenoleukodystrophy
Everything about adrenoleukodystrophy: causes, symptoms, diagnosis and available treatments.
Adrenoleukodystrophy (ALD) is a rare genetic disease affecting the nervous system and the adrenal glands. It is caused by mutations in the ABCD1 gene, located on the X chromosome, which is responsible for transporting very long-chain fatty acids (VLCFAs) into peroxisomes.
When the gene does not function correctly, VLCFAs accumulate in tissues — particularly in the cerebral white matter, the spinal cord and the adrenal cortex — progressively damaging the myelin sheath.
ALD can manifest differently from person to person, even within the same family. The main clinical variants are:
Onset between 3 and 10 years of age, with rapid and progressive neurological regression. This is the most severe form.
Appears in adulthood, with walking difficulties, lower limb weakness and sphincter dysfunctions. Has a slower but progressive course.
Can appear without neurological symptoms, manifesting as chronic fatigue, hypotension and hormonal alterations.
Diagnosis is based on:
Early identification, including through newborn screening, is essential for timely intervention and improved prognosis.
There is currently no definitive cure for ALD, but important scientific progress is being made. Currently available options include:
International research continues to explore new therapeutic strategies, from lipid modulation to artificial intelligence applications for early diagnosis.
The ABCD1 gene variant registry lists all variants according to nomenclature recommended by the Human Genome Variation Society. The registry is available at the following link.
Manus Alba promotes research, awareness and support for people with ALD and their families. Through scientific projects, international conferences and awareness campaigns, we work to build a network of knowledge and solidarity.
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