Inherited metabolic disorders
Late-juvenile metachromatic leukodystrophy
Late-juvenile metachromatic leukodystrophy is a later-childhood form of an inherited sulfatide-storage disorder. Myelin damage can affect learning, behavior, walking and other neurologic functions.
Other names and abbreviations
LJ-MLD · late-juvenile MLD · ARSA deficiency · metachromatic leukodystrophy · MLD · Late-juvenile arylsulfatase A deficiency · Late-onset juvenile metachromatic leukodystrophy
Where transplant fits
Allogeneic transplantation may help selected presymptomatic or very early symptomatic patients. It uses cells from an appropriate donor, including an unrelated donor when suitable, and aims to preserve function rather than repair advanced injury.
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 later in childhood than early-juvenile MLD. Rate of progression and function at assessment vary.
- Other treatment options
- Neurologic, rehabilitation, educational, communication and nutritional care remain important. Early-onset MLD gene-therapy approval should not be generalized to this subtype.
- Cells used for transplantation
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
Why the details matter
Age-based MLD categories are clinical groupings rather than perfect biological boundaries. Stage, imaging and neuropsychological assessment guide treatment decisions.
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.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help JBF reach more people who may be able to donate.
Explore the official registry serving where you live. It explains who can join, how registration works and what donation involves.
Find your official registryIf joining is not right for you, a gift to the Jada Bascom Foundation supports education, outreach and referrals to official registries.
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Why matching is hard: an interactive leukemia story
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