Enzyme Replacement Therapy is available for which of the following disorder ?
Enzyme replacement therapy (E) involves intravenous (IV) infusions to correct the underlying enzyme deficiency that causes symptoms of Gaucher disease . In paicular, a common use of enzyme replacement therapy is for lysosomal storage disease treatment. If you or a loved one has Gaucher disease type 1 or 3, E can minimize symptoms and prevent permanent damage to the body. E balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. This enzyme breaks down glucocerebroside, the fatty chemical that accumulates in the body of patients with Gaucher disease. (This compensates for the missing enzyme, which is why the therapy is called enzyme replacement.) Patients receive E IV infusion, which usually takes 1 to 2 hour. Reference: GHAI Essential pediatrics, 8th edition
Gaucher's disease
Niemann Pick disaease
Mucolipidosis
Metachromatic leukodystrophy
Metabolic disorders