What Is Biochemistry - Adenosine Deaminase Deficiency
Adenosine Deaminase Deficiency
Adenosine deaminase deficiency is associated with severe combined immunodeficiency ( SCID) which may lead to repeated severe viral, bacterial, fungal and protozoal infection.
Patient may also fail to thrive and suffer from pneumocystis carinii pneumonia and widespread skin rash.
Generally adenosine deaminase may involved in the transformation of adenosine into inosine.
Adenosine deaminase involved in degradation of the purine.
Adenosine deaminase deficiency is a form of autosomal recessive disorder. Deficiency of adenosine deaminase may lead to accumulation of adenosine.
As a result there will be an excess of dATP. Excess of dATP may lead to inhibition of ribonucleotide reductase. Ribonucleotide reductase is a form of enzyme involved in the synthesis of DNA.
Inhibition of ribonucleotide reductase may lead to defect in DNA synthesis as well as defect in the differentiation of lymphoid tissue, as a result B cells and T cells will be dysfunction.
Patient with adenosine deaminase deficiency may be treated with exogenous ADA conjugated with the polyethylene glycol, ADA gene therapy and transplant of the bone marrow ( source of stem cells).
Adenosine deaminase deficiency is associated with severe combined immunodeficiency ( SCID) which may lead to repeated severe viral, bacterial, fungal and protozoal infection.
Patient may also fail to thrive and suffer from pneumocystis carinii pneumonia and widespread skin rash.
Generally adenosine deaminase may involved in the transformation of adenosine into inosine.
Adenosine deaminase involved in degradation of the purine.
Adenosine deaminase deficiency is a form of autosomal recessive disorder. Deficiency of adenosine deaminase may lead to accumulation of adenosine.
As a result there will be an excess of dATP. Excess of dATP may lead to inhibition of ribonucleotide reductase. Ribonucleotide reductase is a form of enzyme involved in the synthesis of DNA.
Inhibition of ribonucleotide reductase may lead to defect in DNA synthesis as well as defect in the differentiation of lymphoid tissue, as a result B cells and T cells will be dysfunction.
Patient with adenosine deaminase deficiency may be treated with exogenous ADA conjugated with the polyethylene glycol, ADA gene therapy and transplant of the bone marrow ( source of stem cells).
