Adenosine Deaminase Deficiency


Adenosine deaminiase deficiency(Immunodeficiency) is an autosomal recessive disease caused by a muation in the ADA gene which codes for adenosine deaminase. A deficiency in this enzyme results in immunodeficiency and a decreased concentration of lymphocytes in blood. Symptoms include diarrhea, severe or recurrent infections, vomiting and early onset in children, infants and newborns. Treatment includes bone-marrow transplants and enzyme replacement therapy.

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References

  1. Uniprot: P00813
  2. OMIM: Entry 102700
  3. Wikipedia: Adenosine deaminase deficiency
  4. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 24) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  5. Shovlin CL, Hughes JM, Simmonds HA, Fairbanks L, Deacock S, Lechler R, Roberts I, Webster AD: Adult presentation of adenosine deaminase deficiency. Lancet. 1993 Jun 5;341(8858):1471. Pubmed
  6. Rogers MH, Lwin R, Fairbanks L, Gerritsen B, Gaspar HB: Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J Pediatr. 2001 Jul;139(1):44-50. Pubmed
  7. Ratech H, Greco MA, Gallo G, Rimoin DL, Kamino H, Hirschhorn R: Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol. 1985 Jul;120(1):157-69. Pubmed