Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), is caused by a deficiency of the enzyme α-L-iduronidase. This enzyme is crucial for breaking down complex sugar molecules called glycosaminoglycans (GAGs).
When α-L-iduronidase is missing or doesn't work properly, GAGs build up in various tissues, including the brain, bones, liver, and heart. This buildup leads to a range of symptoms, including:
- Skeletal deformities: Short stature, abnormal bone growth, and joint stiffness.
- Facial features: Coarse facial features, a large tongue, and a prominent forehead.
- Cardiovascular problems: Heart valve defects and heart failure.
- Respiratory problems: Enlarged airways, recurrent infections.
- Neurological problems: Intellectual disability, hearing loss, and vision problems.
Hurler syndrome is a rare genetic disorder, meaning it is passed down from parents to children. It is inherited in an autosomal recessive pattern, which means that both parents must carry the faulty gene for their child to have the disorder.
There is no cure for Hurler syndrome, but early diagnosis and treatment can help manage symptoms and improve quality of life. Treatments may include:
- Enzyme replacement therapy: This involves replacing the missing enzyme.
- Bone marrow transplantation: This can help to produce more of the missing enzyme.
- Physical therapy: This helps to improve mobility and strength.
- Occupational therapy: This helps individuals with daily living skills.
- Speech therapy: This helps to improve communication skills.
