Vitamin, Gene and Enzyme Replacement Therapy

How is vitamin, gene and enzyme replacement therapy useful in the identification, treatment and prevention of birth defects?

Vitamin therapy

Research continues to study nutrition's role either to cause or prevent/decrease the chances for disease. Similarly, there has been research into the nutritional causes of birth defects. One such discovery involves a B vitamin called folic acid.

Taking folic acid one month before and during the first trimester of pregnancy has been shown to reduce the risk for many birth defects, including open neural tube defects (such as spina bifida), heart defects, and others.

For this reason, the Centers for Disease Control and Prevention (CDC) recommends all women who might become pregnant should take a daily multivitamin containing 400 micrograms of folic acid.

Gene therapy

Gene therapy describes inserting or giving a person the normal gene they are missing or replacing a defective gene that is defective.

One disease using gene therapy is known as severe combined immunodeficiency diseases. Severe combined immunodeficiency diseases is a group of rare, life-threatening diseases that a child is born with. The diseases cause the child to have little to no immune system.

As a result, the child's body is unable to fight off infections. This disease process is also known as the "boy in the bubble" because living in the normal environment can prove fatal for these children. Approximately one out of every 50,000 to 100,000 children are born with this inherited disease.

Gene therapy for SCID involves taking the patients' own blood and putting the normal gene into the blood cells. The patient is then given a blood transfusion with their own blood with the normal gene inserted, integrating into the immune system and lessening the symptoms of the disorder.

The process is complicated and not always successful. There is a great deal of research into this promising area of medicine with the hope that other diseases can be treated this way.

Enzyme replacement therapy

Genes code for proteins, and proteins are essentially enzymes. So, when a gene is mutated and does not produce the gene product, an enzyme is missing or defective.

One way to treat a genetic condition is to replace the enzyme that the gene is not producing. Gaucher disease is one of several conditions for which enzyme replacement therapy has been developed.

Due to the deficiency of the enzyme glucocerebrosidase, patients with Gaucher disease have abnormal accumulations of a compound called glucocerebroside. This accumulation causes cells to form Gaucher cells, which displace healthy cells in bone marrow. This causes an enlargement of the liver and spleen, organ dysfunction and deterioration of the skeleton. There are three different types of Gaucher disease ranging with severity and age of onset. An enzyme assay can confirm the diagnosis.

Enzyme replacement therapy has been used to treat Gaucher disease--to reverse the symptoms and improve the quality of life. It must be taken throughout the life of the individual, otherwise the health problems from the gene defect return. Patients must be under the care of a physician to monitor the therapy for any adverse reactions and adjust dosages.

Consult your physician for more information.