Defects in Purine Nucleotide Metabolism

Lesch-Nyhan Syndrome

Severe Combined Immunodeficiency Disease (SCID) - due to adenosine deaminase (ADA) deficiency


Renal Lithiasis - due to adenine phosphoribosyltransferase (APRT) deficiency
Xanthinuria - due to xanthine oxidase deficiency












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Last modified: February 19, 2015