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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back to Inborn Errors Page

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Return to The Mobile Medical Biochemistry Page

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Michael W. King, Ph.D / IU School of Medicine / miking at iupui.edu

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Last modified: August 12, 2009