Metachromatic leukodystrophy

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Synonyms: Arylsulfatase A deficiency | MLD

A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile juvenile and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems depending on the subtype all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Advocacy Organizations

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

Canadian Society for Mucopolysaccharide & Related Diseases Inc.

The Canadian Society for Mucopolysaccharide and Related Diseases Inc. (The Canadian MPS Society), founded in 1984, serves all Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research.

Lysosomal Storage Disorders Support Society

LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.

MPS Society

The MPS Society supports families through difficult times and helps people living with rare diseases to live their lives to the full. Founded in 1982 and led by people directly affected by these diseases, we are the only registered charity in the UK which focusses on MPS (Mucopolysaccharide), Fabry and related conditions, a group of 27 rare, life-limiting genetic diseases.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.