Enzyme replacement therapy -Treatment of pompe disease and advantages


  • Enzyme replacement therapy is a one type of medical treatment that are used in when enzyme are deficient or absent in the human body. Enzyme replacement therapy are important in the replacement of enzyme in human body.


  • Enzymes are important in the medical biology that are used in medicine as a prognostic, markers, diagnostics, these application are widely used in the medical biology.
  • There are some enzymes are also used as a new biological drug, they are important in the certain type of genetic disorder.
  • Scientists are finds more then of 300 genetic disorder disease, In there 300 genetic disorder in some are treated by enzyme replacement therapy.
  • We know enzymes are biologically active proteins but proteins are not enzyme.
  • Enzymes are important in the accelerating to biochemical reaction.
  • Every enzyme have perform a particular functions.
  • There are thousands of enzyme are present in the human body and every enzyme are work in our immune system with a particular role.
  • So that enzymes are very useful for our immune system.


  • There are different kinds of enzymes are present in our human body that used in the enzyme replacement therapy.
  • Examples :- chymotrypsin, bromilian, rennin, papain, cellulose, DNASE1, alignate lyase, adenosine deaminase, diydrofolate reductase, lipase and strepto kinase.
  • There are some diseases that are treated by using of enzymes.
  • Examples :- Gaucher disease, hunter syndrome, fabray disease, pompe disease, maroteaux-lamy syndrome, morquio A syndrome and LAL deficiency syndrome.


  • Pompe disease is a one type of genetic disorders.
  • Pompe disease caused in human cells, when sugar complex are formed in the human body.
  • In pompe this disease some organs, tissues are does work properly in human body, such as muscle cells are does not work properly.

     ⇒There are three type of pompe disease :-

  1. Classic infantile-onset
  2. Non-classic infantile-onset
  3. Late onset


  1. Classic infantile-onset :-
  • This kind of pompe disease start after few months of birth.
  • Classic infantile-onset provide muscle weakness, they are mainly affect to weak muscles and bones and affect to liver cell .
  • Because of liver is most sensitive cell of immune system, they changed to structure of liver cell.
  1. Non-classic infantile-onset :-
  • This pompe disease are start after one year of brith.
  • They also affect to muscle or bone cells and change in size of heart.

3. Late onset :-

  • Late onset disease comes after childhood in human body.
  • They affect to heart, provide muscle weakness, problems in breathing.


  • Alglucosidase alfa enzyme are used in the treatment of pompe disease.
  • Alglucosidase alfa enzyme are changed the natural history of disease by using recombinant technology.
  • For treatment of the pompe disease alglucosidase alfa is the first and specific treatment for this disease.
  • Cardiomyopathy therapy are used in treatment of pompe disease.
  • By this therapy both childrens and adults are treated.
  • There are 1200 patients of pompe disease is treated after 2006.
  • So that these are huge success in treatment of pompe disease.


  • Enzyme replacement therapy is important in treatment of different kinds of genetic disorders. Such as gaucher disease, fabray disease, hunter syndrome etc.
  • Enzyme replacemet therapy also important in the treatment of severe combined immunodeficiency.
  • Simple technique and easy to use of this technique.
  • limited loss of activity in enzyme replacement therapy.


  • Highly expensive method
  • There are high cost for the isolation and purification of enzyme.
  • Industrial applications are limited in the enzyme replacement therapy.
  • Very few industries are used the immobilized enzyme.
  • Enzyme replacement therapy have also side affect in the treatment of genetic disorders.


  • Enzyme replacement therapy are important in the treatment of genetic disorder, enzyme replacement therapy is a simple technique, enzyme replacement therapy provide new life to patients.
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