Adenosine Deaminase Deficiency (ADA)
Adenosine Deaminase
Function : convert a substance that is harmful to lymphocytes (called deoxyadenosine) to a non-toxic material
Effect of deficiency
expressed in cytosol of all cells
Severe Combined Immunodeficiency Disease (SCID)
both T-cell & B-cell deficient & dysfunctional
Increase deoxyadenosine & adeosine
Increase deoxyATP
inhibit ribonucleotide reductase
inhibit DNA synthesis
less proliferation of lymphocytes
Symptoms
develop 6 months of age
diagnosed with SCID - reduce or absent of immune response
chronic diarrhea, pneumonia, lung infections, widespread skinrashes, slowed growth
Treatment
Bone marrow replacement
Enzyme replacement therapy
without appropriate treatment, children usually die at the age of two