About Congenital sialidosis type 2

What is Congenital sialidosis type 2?

Congenital sialidosis type 2 is a rare inherited disorder caused by a deficiency of the enzyme neuraminidase. It is characterized by the accumulation of sialic acid in the body, which can lead to a variety of symptoms including developmental delay, seizures, hearing loss, vision problems, and skeletal abnormalities. It is usually diagnosed in infancy or early childhood. Treatment is supportive and may include physical and occupational therapy, speech therapy, and dietary modifications.

What are the symptoms of Congenital sialidosis type 2?

The symptoms of Congenital Sialidosis Type 2 vary from person to person, but may include:

-Developmental delay

-Intellectual disability

-Seizures
-Hearing loss
-Vision problems
-Feeding difficulties
-Growth delays
-Frequent respiratory infections
-Cherry-red spots in the eyes
-Facial dysmorphism
-Enlarged liver and spleen
-Abnormal accumulation of glycoproteins in the cells
-Abnormal accumulation of sialic acid in the urine

What are the causes of Congenital sialidosis type 2?

Congenital sialidosis type 2 is caused by mutations in the NEU1 gene. This gene provides instructions for making an enzyme called sialidase. This enzyme is involved in the breakdown of certain molecules called sialic acids. Mutations in the NEU1 gene reduce or eliminate the activity of sialidase, leading to the buildup of sialic acids in the body. This buildup causes the signs and symptoms of congenital sialidosis type 2.

What are the treatments for Congenital sialidosis type 2?

The treatments for Congenital sialidosis type 2 are largely supportive and symptomatic. Treatment may include physical therapy, occupational therapy, speech therapy, and nutritional support. In some cases, medications may be prescribed to help manage symptoms such as seizures, pain, and difficulty breathing. Bone marrow transplantation has been used in some cases to help improve the patient's overall health.

What are the risk factors for Congenital sialidosis type 2?

1. Having a family history of Congenital sialidosis type 2
2. Being of Ashkenazi Jewish descent
3. Having a mutation in the NEU1 gene
4. Being exposed to certain environmental toxins
5. Having a weakened immune system
6. Having certain metabolic disorders
7. Being exposed to certain medications during pregnancy

Is there a cure/medications for Congenital sialidosis type 2?

There is currently no cure for Congenital sialidosis type 2. However, there are medications that can help manage the symptoms. These include enzyme replacement therapy, which replaces the missing enzyme in the body, and medications to help manage pain, seizures, and other symptoms.