Metachromatic leukodystrophy, adult form

Metachromatic leukodystrophy (MLD), adult form, is a rare inherited metabolic disease that affects the nervous system. It is also sometimes called adult-onset MLD or MLD type 3. The disease is caused by a shortage of an enzyme called arylsulfatase A (ASA), which is needed to break down certain fatty substances called sulfatides. When sulfatides build up in the body, they damage the protective covering (myelin) around nerve fibers in the brain, spinal cord, and peripheral nerves. This process is called demyelination, and it leads to progressive neurological problems. The adult form of MLD typically begins after age 16, often in the late teens or twenties, though it can appear even later. Early symptoms often involve psychiatric or behavioral changes such as personality shifts, depression, or difficulty concentrating, which can be mistaken for mental health conditions. Over time, people develop problems with thinking, memory, coordination, walking, and speech. The disease progresses more slowly than childhood forms but still leads to significant disability over years to decades. Treatment options have expanded in recent years. In 2024, the FDA approved atidarsagene autotemcel (Lenmeldy), a gene therapy, though its use is primarily studied in pre-symptomatic or early-symptomatic young children. For adults, treatment remains largely supportive, including physical therapy, speech therapy, and management of psychiatric symptoms. Hematopoietic stem cell transplantation (bone marrow transplant) may slow disease progression in some adult patients if performed early, before significant neurological damage has occurred. Research into new therapies, including enzyme replacement and gene therapy approaches for older patients, is ongoing.

Bring these to your next appointment

• Q1.How advanced is the disease based on my current symptoms and MRI findings?,Am I a candidate for hematopoietic stem cell transplantation, and what are the risks and benefits at my stage?,Are there any clinical trials for adult MLD that I might be eligible for?,What therapies and supportive treatments should I start now to maintain my function as long as possible?,Should my siblings or other family members be tested for MLD or carrier status?,What should I watch for as signs that the disease is progressing?,Can you connect me with a multidisciplinary care team experienced in leukodystrophies?

Common questions about Metachromatic leukodystrophy, adult form

Related conditions

Other rare diseases commonly researched alongside Metachromatic leukodystrophy, adult form.

• Metachromatic leukodystrophy, juvenile form→
• Metachromatic leukodystrophy, late infantile form→
• Multiple sulfatase deficiency→
• X-linked adrenoleukodystrophy→