Adenosine deaminase deficiency

Adenosine deaminase deficiency (pronunciation: ad-uh-NOH-seen dee-AM-uh-nayz duh-FISH-uhn-see) is a rare genetic disorder that affects the immune system. It is characterized by a deficiency of the enzyme adenosine deaminase.

Etymology

The term "adenosine deaminase deficiency" is derived from the name of the enzyme that is deficient in this condition. "Adenosine" is a nucleoside consisting of the nitrogenous base adenine and the sugar ribose. "Deaminase" refers to the class of enzymes that catalyze the removal of an amino group from a molecule. "Deficiency" refers to the lack or shortage of something.

Causes

Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase, which is crucial for the function of immune cells. A deficiency of this enzyme leads to the accumulation of certain toxic substances that can damage or destroy immune cells, leading to severe combined immunodeficiency (SCID).

Symptoms

The symptoms of adenosine deaminase deficiency typically become apparent in infancy and may include recurrent severe infections, failure to thrive, and persistent diarrhea.

Diagnosis

The diagnosis of adenosine deaminase deficiency is confirmed through genetic testing, which can identify mutations in the ADA gene. Blood tests may also be used to measure the level of adenosine deaminase in the blood.

Treatment

The treatment for adenosine deaminase deficiency may include enzyme replacement therapy, gene therapy, and stem cell transplant.

Related Terms

External links

Medical encyclopedia article on Adenosine deaminase deficiency
Wikipedia's article - Adenosine deaminase deficiency

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