Question

State the cause of adenosine deaminase enzyme deficiency.

Answer 1

Adenosine deaminase deficiency is a deficiency that causes immunodeficiency. This is a metabolic disorder. These are caused by the mutations in ADA genes. Adenosine deaminase is also known as adenosine aminohydrolase. This is an enzyme that is involved in the purine metabolism. There are many causes which occur from this deficiency. Here, those causes are to be analyzed and examined.

Complete answer:
Adenosine deaminase deficiency is an autosomal genetic disorder. These are very much serious and life-threatening kinds of deficiency. They virtually lack all immune protection from bacteria, fungi and virus. These are caused by opportunistic organisms which do not cause any harm with a normal immune system. Most of the individuals with this deficiency are also diagnosed by SCID. There are many causes which are caused by this deficiency. They are as follows:
- These are caused by the mutations of ADA genes.
- ADA gene provides instructions for producing this enzyme.
- This is inherited in the autosomal recessive manner.
- ADA gene is responsible for making an enzyme that is found in the lymphocytes.
- Immature lymphocytes are vulnerable of the toxic buildup of the enzyme deoxyadenosine.
- These cells help to fight against mature infection.
- Lymphocytes are produced in the specialized lymphoid tissue which also includes thymus in it.
- This gland is present behind the breastbone and lymph nodes that are present throughout the body.
- This disease starts before six months of age.
- This enzyme is encoded by the chromosome 20. Babies having this kind of disease will have lung infection and diarrhea. They don’t grow well and they have trouble gaining weight. This is needed from the breakage of adenosine from the food. This is the turnover in the nucleic acids of the tissues.

Note: Adenosine deaminase deficiency has the main function in humans. That is, it helps in the maintenance and the development of the immune system. This has an activity of adenosine during ischemic stress. This enzyme leads mutation to overexpression and that leads to hemolytic anemia. Some of the elevated levels can also lead to AIDS. So, these are the causes of adenosine deaminase deficiency.