About Hurler-Scheie syndrome

What is Hurler-Scheie syndrome?

Hurler-Scheie syndrome is a rare, inherited disorder that is part of a group of conditions known as mucopolysaccharidoses (MPS). It is caused by a deficiency of the enzyme alpha-L-iduronidase, which is responsible for breaking down certain complex sugars in the body. People with Hurler-Scheie syndrome typically have milder symptoms than those with Hurler syndrome, the most severe form of MPS. Symptoms may include skeletal abnormalities, developmental delays, hearing loss, vision problems, and heart and lung problems.

What are the symptoms of Hurler-Scheie syndrome?

The most common symptoms of Hurler-Scheie syndrome include:

-Developmental delays
-Cognitive impairment
-Coarse facial features
-Enlarged head
-Short stature
-Hearing loss
-Heart defects
-Liver and spleen enlargement
-Joint stiffness
-Umbilical hernia
-Frequent respiratory infections
-Corneal clouding
-Gastrointestinal problems
-Sleep apnea
-Scoliosis
-Kyphosis
-Hernias
-Urological problems
-Seizures
-Behavioral problems

What are the causes of Hurler-Scheie syndrome?

Hurler-Scheie syndrome is caused by a mutation in the gene that codes for the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down certain complex sugars in the body. When the enzyme is not functioning properly, these sugars accumulate in the body, leading to the symptoms of Hurler-Scheie syndrome.

What are the treatments for Hurler-Scheie syndrome?

The primary treatment for Hurler-Scheie syndrome is enzyme replacement therapy (ERT). This involves intravenous infusions of the enzyme alpha-L-iduronidase, which helps to break down the glycosaminoglycans that accumulate in the body. Other treatments may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and bone marrow transplantation. In some cases, medications such as non-steroidal anti-inflammatory drugs (NSAIDs) may be used to reduce pain and inflammation.

What are the risk factors for Hurler-Scheie syndrome?

1. Genetic mutation in the IDUA gene
2. Family history of Hurler-Scheie syndrome
3. Being male
4. Being of Ashkenazi Jewish descent

Is there a cure/medications for Hurler-Scheie syndrome?

There is no cure for Hurler-Scheie syndrome, but medications and treatments can help manage the symptoms. These include enzyme replacement therapy, bone marrow transplantation, physical therapy, occupational therapy, speech therapy, and orthopedic surgery.