Mucopolysaccharidosis type I Hurler syndrome
Mucopolysaccharidosis type I Hurler syndrome (MPS I Hurler syndrome) is a rare genetic disorder characterized by a deficiency of a specific enzyme required to break down mucopolysaccharides in the body. This deficiency leads to a buildup of these substances, causing a range of health problems.
Overview[edit | edit source]
MPS I Hurler syndrome is the most severe form of Mucopolysaccharidosis type I, a spectrum of disorders that also includes Hurler-Scheie syndrome and Scheie syndrome. It is named after Gertrud Hurler, the German pediatrician who first described the condition in 1919.
Causes[edit | edit source]
MPS I Hurler syndrome is caused by mutations in the IDUA gene, which provides instructions for producing an enzyme called alpha-L-iduronidase. This enzyme is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). When the enzyme is deficient or absent, GAGs accumulate in the body's cells, leading to the symptoms of MPS I Hurler syndrome.
Symptoms[edit | edit source]
Symptoms of MPS I Hurler syndrome typically become apparent within the first year of life. They may include coarse facial features, clouding of the corneas, hearing loss, heart disease, respiratory problems, and mental retardation. Affected individuals may also have a short stature, joint stiffness, and skeletal abnormalities.
Diagnosis[edit | edit source]
Diagnosis of MPS I Hurler syndrome is based on clinical examination, identification of characteristic symptoms, and specialized laboratory tests. These tests may include enzyme activity assays to measure the level of alpha-L-iduronidase in the blood, and genetic testing to identify mutations in the IDUA gene.
Treatment[edit | edit source]
There is currently no cure for MPS I Hurler syndrome. Treatment is aimed at managing symptoms and improving quality of life. This may include physical therapy, surgery to correct skeletal abnormalities, and medications to manage heart and respiratory problems. Enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) may also be used to slow the progression of the disease.
Prognosis[edit | edit source]
The prognosis for individuals with MPS I Hurler syndrome is generally poor, with most individuals not surviving past childhood. However, early diagnosis and treatment can improve the quality of life and potentially extend lifespan.
See also[edit | edit source]
- Mucopolysaccharidosis
- Genetic disorder
- Enzyme replacement therapy
- Hematopoietic stem cell transplantation
NIH genetic and rare disease info[edit source]
Mucopolysaccharidosis type I Hurler syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
