Brief information about it:
Sanfilippo syndrome type A is a rare genetic disorder caused by a deficiency of the enzyme N-sulfatase. This enzyme is responsible for breaking down a complex sugar molecule called heparan sulfate. When N-sulfatase is deficient, heparan sulfate accumulates in the body’s cells, leading to various symptoms.
Uses:
Treatment of Sanfilippo syndrome type A: Enzyme replacement therapy (ERT) is the primary treatment for Sanfilippo syndrome type A. The ERT medication Naglazyme (galsulfase) is used to replace the missing N-sulfatase enzyme.
Mechanism of action:
Enzyme replacement therapy (ERT) for Sanfilippo syndrome type A works by:
- Replacing the missing enzyme: Naglazyme provides a synthetic version of the N-sulfatase enzyme, which helps break down heparan sulfate.
- Reducing symptoms: By reducing the buildup of heparan sulfate, ERT can help alleviate symptoms of Sanfilippo syndrome, such as intellectual disability, delayed development, and aggressive behavior.
- Slowing disease progression: ERT can help slow down the progression of Sanfilippo syndrome and improve quality of life.
Elimination half life:
The elimination half-life of Naglazyme can vary depending on individual factors. It is generally excreted from the body within a few days.
Route of Administration:
Naglazyme is administered intravenously, meaning it is injected directly into the bloodstream.
Side effects:
Naglazyme can cause side effects, including:
- Infections: Naglazyme can weaken the immune system, making you more susceptible to infections.
- Allergic reactions: Allergic reactions to Naglazyme are rare but possible.
- Infusion reactions: Some patients may experience infusion reactions, such as fever, chills, or flushing.
Dose:
The recommended dose of Naglazyme varies depending on the severity of Sanfilippo syndrome type A and individual factors. It is typically administered as a regular infusion, either every two weeks or every month.
Precautions:
· Consult a doctor: Before receiving Naglazyme, consult with a healthcare professional to ensure it is safe for you and to discuss potential risks and benefits.
· Medical history: Inform your doctor about any personal or family history of conditions such as allergies, infections, or immune system disorders.
· Infections: Avoid exposure to infections before and after receiving Naglazyme.
