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Purine-Pyrimidine Metabolism, Inborn Errors

More information in Books or onNLM PubMed
Definition:   do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific purine /metab (IM) or pyrimidine /metab (IM); DF: PP METAB INBORN ERR   
Examples Dihydropyrimidine Dehydrogenase Deficiency; Gout; Lesch-Nyhan Syndrome
Other names Purine Pyrimidine Metabolism, Inborn Errors
 
SubstanceCAS Registry & nameCategoriesSource
Uridine monophosphate synthase deficiency  0   *Purine-Pyrimidine Metabolism, Inborn Errors Orotidine-5'-Phosphate Decarboxylase/deficiency.
Adenylosuccinate lyase deficiency  0   *Purine-Pyrimidine Metabolism, Inborn Errors Adenylosuccinate Lyase/deficiency.
Adenosine monophosphate deaminase deficiency  0   *Purine-Pyrimidine Metabolism, Inborn Errors AMP Deaminase/deficiency.
Phosphoribosylpyrophosphate synthetase deficiency  0   *Purine-Pyrimidine Metabolism, Inborn Errors Ribose-Phosphate Pyrophosphokinase/deficiency.
Oroticaciduria 1  0   *Purine-Pyrimidine Metabolism, Inborn Errors Orotate Phosphoribosyltransferase/deficiency Orotidine-5'-Phosphate Decarboxylase/deficiency.
Thiopurine S methyltranferase deficiency  0   *Drug Hypersensitivity *Purine-Pyrimidine Metabolism, Inborn Errors. Clin Pharm Ther 1989; 46:149

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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