Defects in Purine Nucleotide Metabolism
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Lesch-Nyhan Syndrome
Severe Combined Immunodeficiency Disease (SCID)
- due to adenosine deaminase (ADA) deficiency
Gout
Renal Lithiasis
- due to adenine phosphoribosyltransferase (APRT) deficiency
Xanthinuria
- due to xanthine oxidase deficiency
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Michael W. King, Ph.D / IU School of Medicine / miking at iupui.edu
Last modified: November 2, 2009