Adenosine deaminase (ADA) deficiency is an inherited disease that damages the immune system and causes severe combined immunodeficiency. These individuals lack virtually all immune protection against bacteria, viruses, and fungi. They are also prone to recurrent and persistent infections that are very serious or life-threatening. These infections are usually caused by opportunistic organisms that do not normally cause disease in people with a normal immune system.
The main symptoms of adenosine deaminase (ADA) deficiency are pneumonia, chronic diarrhea and widespread skin rash. Affected children also develop much more slowly than healthy children, and some have developmental delays.
The function of the adenosine deaminase enzyme is to remove a molecule called deoxyadenosine, which is formed when DNA is broken down. Adenosine deaminase converts deoxyadenosine, which is toxic to lymphocytes, into another molecule called deoxyinosine, which is not harmful. Numerous mutations have been identified in the adenosine deaminase gene. Most of these mutations result in the replacement of a protein building block (i.e., amino acid) with another amino acid in the enzyme adenosine deaminase. Other mutations cause the enzyme to be unstable or prevent it from being produced. These mutations cause an absence or deficiency of the enzyme adenosine deaminase in cells, preventing the normal breakdown of deoxyadenosine. Accumulation of this toxic compound inhibits the development and maintenance of lymphocytes and causes severe combined immunodeficiency characteristic of adenosine deaminase deficiency.
Adenosine deaminase analysis is performed to measure the level of adenosine deaminase in a person's pleural fluid.r. The overall objective of this analysis is the diagnosis of the disease commonly known as tuberculosis.
Briefly, adenosine deaminase (ADA) is an enzyme found in the human body and its main function is to help purine metabolism. This enzyme helps break down adenosine from food and thus facilitates the conversion of nucleic acids in different body tissues. In humans, the primary function of the adenosine deaminase test is to enhance and maintain the immune system. It is also involved in some other minor functions such as maintaining pregnancy, releasing amino acids in the body, neurotransmission, and epithelial cell differentiation.
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