About Mucopolysaccharidosis Type I

What is Mucopolysaccharidosis Type I?

Mucopolysaccharidosis Type I (MPS I) is a rare, inherited metabolic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down complex sugar molecules called glycosaminoglycans (GAGs). Without this enzyme, GAGs accumulate in the body’s cells and tissues, leading to a wide range of physical and mental health problems. Symptoms of MPS I can include skeletal abnormalities, organ enlargement, hearing loss, vision problems, and cognitive impairment. Treatment options for MPS I include enzyme replacement therapy, bone marrow transplantation, and supportive care.

What are the symptoms of Mucopolysaccharidosis Type I?

The symptoms of Mucopolysaccharidosis Type I (MPS I) vary depending on the type of MPS I, but can include:

-Developmental delays

-Intellectual disability

-Coarse facial features

-Enlarged head

-Enlarged liver and spleen

-Heart valve problems

-Hearing loss

-Corneal clouding

-Joint stiffness

-Short stature

-Skeletal abnormalities

-Breathing problems

-Umbilical hernia

-Frequent respiratory infections

-Sleep apnea

-Gastrointestinal problems

-Urinary tract infections

What are the causes of Mucopolysaccharidosis Type I?

Mucopolysaccharidosis Type I (MPS I) is caused by a genetic mutation in the gene responsible for producing the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs). Without this enzyme, GAGs accumulate in the body, leading to the symptoms of MPS I.

What are the treatments for Mucopolysaccharidosis Type I?

1. Enzyme Replacement Therapy (ERT): This is the primary treatment for Mucopolysaccharidosis Type I (MPS I). ERT involves the intravenous infusion of a recombinant form of the enzyme alpha-L-iduronidase, which helps to break down the glycosaminoglycans (GAGs) that accumulate in the body.

2. Bone Marrow Transplantation: This is a more aggressive treatment option for MPS I, and involves replacing the patient's bone marrow with healthy donor marrow. This can help to reduce the amount of GAGs in the body, and can also help to improve the patient's overall health.

3. Symptomatic Treatment: This involves treating the symptoms of MPS I, such as pain, respiratory problems, and joint stiffness. This can include physical therapy

What are the risk factors for Mucopolysaccharidosis Type I?

1. Genetic inheritance: Mucopolysaccharidosis Type I (MPS I) is an inherited disorder caused by a mutation in the gene responsible for producing the enzyme alpha-L-iduronidase.

2. Age: MPS I is most commonly diagnosed in infancy or early childhood.

3. Gender: MPS I affects males and females equally.

4. Ethnicity: MPS I is more common in certain ethnic groups, including Ashkenazi Jews, Irish, French Canadians, and Cajuns.

5. Family history: Individuals with a family history of MPS I are at an increased risk of developing the disorder.

Is there a cure/medications for Mucopolysaccharidosis Type I?

Yes, there is a cure for Mucopolysaccharidosis Type I (MPS I). The only available treatment is enzyme replacement therapy (ERT). ERT involves the intravenous infusion of a recombinant form of the enzyme alpha-L-iduronidase, which is missing in people with MPS I. This enzyme helps break down the glycosaminoglycans (GAGs) that accumulate in the body. ERT can help improve the symptoms of MPS I, but it does not cure the condition. Other medications, such as pain relievers, antibiotics, and anti-inflammatory drugs, may also be prescribed to help manage symptoms.