Mucopolysaccharidosis I

Mucopolysaccharidosis I (MPS I) is a rare genetic disorder that affects various body systems. It is characterized by the body's inability to properly break down and recycle specific molecules known as glycosaminoglycans (GAGs).

Causes

MPS I is caused by mutations in the IDUA gene. This gene provides instructions for producing an enzyme called alpha-L-iduronidase, which is involved in the breakdown of GAGs. Mutations in the IDUA gene reduce or completely eliminate the function of alpha-L-iduronidase, leading to the accumulation of GAGs within cells. This accumulation disrupts the normal functioning of cells, leading to the various signs and symptoms of MPS I.

Symptoms

The symptoms of MPS I vary widely among affected individuals and range from mild to severe. They may include abnormal bone development, hydrocephalus, heart valve disease, hearing loss, and vision problems. Individuals with severe MPS I also have a shortened lifespan, while those with milder forms can live into adulthood.

Diagnosis

Diagnosis of MPS I involves a thorough clinical evaluation, detailed patient history, and specialized laboratory tests that can measure the levels of specific enzymes or GAGs in a person's blood or urine. Genetic testing can also be used to identify mutations in the IDUA gene.

Treatment

There is currently no cure for MPS I, but treatment options are available to help manage symptoms and improve quality of life. These may include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and various supportive treatments to manage symptoms.

See also

• Mucopolysaccharidosis
• Genetic disorder
• Enzyme replacement therapy
• Hematopoietic stem cell transplantation