Defects in Purine Nucleotide Metabolism
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 Meidicne / miking at iupui.edu