About Free sialic acid storage disease, infantile form

What is Free sialic acid storage disease, infantile form?

Free sialic acid storage disease, infantile form 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. Without enough of this enzyme, sialic acid accumulates in the body, leading to a variety of symptoms, including developmental delays, seizures, and movement disorders. Treatment typically involves dietary modifications and enzyme replacement therapy.

What are the symptoms of Free sialic acid storage disease, infantile form?

The symptoms of Free Sialic Acid Storage Disease, infantile form, include:

-Developmental delay
-Seizures
-Feeding difficulties
-Failure to thrive
-Growth retardation
-Hepatosplenomegaly
-Cherry-red spots in the eyes
-Cataracts
-Hearing loss
-Cognitive impairment
-Movement disorders
-Hypotonia
-Cardiac abnormalities
-Respiratory problems
-Skin abnormalities
-Gastrointestinal problems
-Renal abnormalities
-Endocrine abnormalities

What are the causes of Free sialic acid storage disease, infantile form?

Free sialic acid storage disease, infantile form is caused by mutations in the SLC17A5 gene. This gene provides instructions for making a protein that transports sialic acid, a type of sugar molecule, into cells. Mutations in this gene lead to an accumulation of free sialic acid in the body, which can cause a range of symptoms.

What are the treatments for Free sialic acid storage disease, infantile form?

The treatments for Free Sialic Acid Storage Disease, infantile form, include dietary management, enzyme replacement therapy, and bone marrow transplantation. Dietary management involves restricting the intake of sialic acid-containing foods, such as dairy products, eggs, and certain vegetables. Enzyme replacement therapy involves the administration of a recombinant form of the deficient enzyme, N-acetylneuraminic acid lyase. Bone marrow transplantation is a more aggressive treatment option that involves replacing the patient's bone marrow with healthy donor marrow.

What are the risk factors for Free sialic acid storage disease, infantile form?

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

2. Family history: Individuals with a family history of the disease are at an increased risk of developing the condition.

3. Age: The disease is most commonly seen in infants and young children.

4. Gender: The disease is more common in males than females.

5. Ethnicity: The disease is more common in individuals of Ashkenazi Jewish descent.

Is there a cure/medications for Free sialic acid storage disease, infantile form?

Unfortunately, there is no cure for Free Sialic Acid Storage Disease, infantile form. However, there are medications that can help manage the symptoms. These medications include enzyme replacement therapy, dietary modifications, and medications to reduce seizures. Additionally, physical and occupational therapy can help improve the quality of life for those affected by the disease.