Inherited metabolic disorders
Adult-onset metachromatic leukodystrophy
Adult-onset metachromatic leukodystrophy is a later form of an inherited sulfatide-storage disorder, usually caused by ARSA deficiency. It damages myelin in the nervous system and may first appear as changes in behavior, thinking or movement.
Other names and abbreviations
Adult MLD · AO-MLD · ARSA deficiency · metachromatic leukodystrophy · MLD · Adult arylsulfatase A deficiency · Adult metachromatic leukodystrophy
Where transplant fits
Allogeneic transplantation may be considered for carefully selected people before substantial neurologic decline. It uses donor cells, but does not reliably reverse established injury and can itself cause serious complications.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Begins in later adolescence or adulthood, with a variable course and sometimes delayed recognition.
- Other treatment options
- Neurologic, psychiatric, mobility, communication and nutritional care address symptoms and daily needs. Approved early-onset MLD gene-therapy indications should not be extended to adult-onset disease.
- Cells used for transplantation
- Allogeneic donor stem cells in selected specialist protocols; no universally preferred source is established by the adult-specific evidence.
Why the details matter
Adult evidence is limited and strongly affected by disease stage and patient selection. Stability in a small series is not proof of universal benefit.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- Arylsulfatase A Deficiency
GeneReviews, University of Washington / NCBI Bookshelf · Accessed 2026-09-05 - Inborn Errors of Metabolism and Osteopetrosis
EBMT Handbook · 2024-04-11
Understanding can become action.
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