encyclopedia of medical concepts
ψ
ψ
Purine-Pyrimidine Metabolism, Inborn Errors
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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
Substance
CAS Registry & name
Categories
Source
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