Free sialic acid storage disease is a rare inherited metabolic disorder caused by a deficiency of the enzyme sialic acid synthase. This enzyme is responsible for the synthesis of sialic acid, a sugar molecule found in many tissues and organs. People with this disorder are unable to properly break down sialic acid, leading to its accumulation in the body. Symptoms of free sialic acid storage disease can include developmental delays, seizures, and movement disorders. Treatment typically involves dietary modifications and enzyme replacement therapy.

The symptoms of Free Sialic Acid Storage Disease (FSASD) vary depending on the severity of the condition, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Movement disorders
-Growth retardation
-Feeding difficulties
-Hearing loss
-Vision problems
-Behavioral problems
-Organomegaly (enlargement of the liver and/or spleen)
-Hypotonia (low muscle tone)
-Gastrointestinal problems
-Skin abnormalities
-Cardiac abnormalities
-Renal abnormalities

Free sialic acid storage disease is caused by mutations in the SLC17A5 gene, which is responsible for producing a protein called sialin. This protein is responsible for transporting sialic acid, a type of sugar molecule, from the lysosomes to the cytoplasm. When the gene is mutated, the sialin protein is not produced, leading to an accumulation of sialic acid in the lysosomes. This accumulation of sialic acid causes the symptoms of free sialic acid storage disease.

The treatments for free sialic acid storage disease vary depending on the severity of the condition. Generally, treatments focus on managing the symptoms and preventing further complications. These may include dietary modifications, physical therapy, medications, and surgery. Dietary modifications may include avoiding foods high in sialic acid, such as dairy products, eggs, and certain vegetables. Physical therapy may help improve mobility and strength. Medications may be prescribed to reduce inflammation and pain. Surgery may be necessary to correct any structural abnormalities.

1. Genetic mutation: Free sialic acid storage disease is caused by a genetic mutation in the SLC17A5 gene.

2. Family history: Having a family history of the disease increases the risk of developing it.

3. Age: The disease is more common in children and young adults.

4. Ethnicity: Free sialic acid storage disease is more common in people of Ashkenazi Jewish descent.

At this time, there is no known cure for free sialic acid storage disease. However, there are medications that can help manage the symptoms of the disease. These medications include enzyme replacement therapy, which helps to replace the missing enzyme in the body, and medications to help manage the symptoms of the disease, such as seizures, muscle weakness, and difficulty breathing.