Several applications of enzyme replacement therapy are applicable to Gaucher disease, Pompe disease, and Hunter syndrome.

Enzyme replacement therapy (ERT) is a clinical remedy used to update an enzyme this is poor or absent within the body. ERT is particularly utilized in Fabry disorder, Gaucher disorder, Hunter syndrome, Pompe disorder, MPS I, and MPS VI. Although ERT does now no longer accurate for the underlying genetic impact defect, it will increase the awareness of the enzyme that the affected person is lacking. Furthermore, ERT is getting used to deal with sufferers tormented by intense blended immunodeficiency (SCID) due to an adenosine deficiency. In particular, enzyme substitute remedy is used within the remedy of lysosomal garage disorder remedy.


Enzyme replacement therapy entails intravenous (IV) infusions with a purpose to accurate underlying enzyme deficiency, which ends up in signs and symptoms of Gaucher disorder. The number one feature of ERT is to stability low stages of glucocerebrosidase (GCase) enzyme with the assist of a changed model of the enzyme. The sufferers acquire ERT through IV infusions, which normally soak up to 1-2 hours. The majority of sufferers acquire ERT at infusion facilities. The infusion facilities are specialized clinical centers with information on IV infusions. Furthermore, sufferers may additionally acquire ERT infusions at hospitals and physicians’ offices. This, in turn, permits medication practitioners to maintain music of the affected person’s healing and improvement.


Some sufferers are given enzyme replacement therapy infusions at domestic with the assist of a domestic fitness nurse. This generally saves time and trouble of travel. There are sure blessings and downsides of enzyme substitute remedies. The blessings encompass fewer facet results in comparison to substrate discount remedy (SRT), longer drug history, and wider availability. On the contrary, the hazards encompass inconvenience, extra invasive than SRT, and fatigue. Side results of ERT encompass rash, fever, flushed skin, headache, chest discomfort, excessive or low blood pressure, muscle tremors, nausea & vomiting, dizziness, and quickened coronary heart rate. Apart from Gaucher disorder, enzyme substitute remedy is likewise used for the remedy of Pompe disorder.