Mucopolysaccharidosis type 1

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Mucopolysaccharidosis type 1

Synonyms: Alpha-L-iduronidase deficiency | MPS1 | MPSI | Mucopolysaccharidosis type I

Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants differing widely in their severity with Hurler syndrome being the most severe Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.

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 February 2024

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Mucopolysaccharidosis type 1?

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Advocacy Organizations

Emory Lysosomal Storage Disease Center

The Emory Lysosomal and Peroxisomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all of our patients affected by lysosomal storage diseases.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

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.

Orphan Disease Center

We work closely with patient groups, foundations, pharma, biotech, and the academic community. We bring a unique set of programs to the table, enabling us to add value at any stage - from building the initial knowledge base to enabling therapeutic development. Through our grants, Programs of Excellence, and JumpStart programs, we seek to drive therapeutic development for rare diseases.

Project Alive

Project Alive exists to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through research and advocacy. Project Alive is a powerful voice for children and adults with Hunter Syndrome, bringing together families and advocates with researchers, industry, and regulators. The organization funds promising curative research, assists researchers and industry with designing research studies for our community, and advocates for the most effective and efficient system of clinical research, evaluation, and approval. Through its innovative campaigns and grassroots efforts, Project Alive has made significant advances in public awareness about Hunter Syndrome and its symptoms, the need for early diagnosis, and available treatments and clinical trials.

Clinical Trials

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