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Inborn errors of purine–pyrimidine metabolism
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Inborn error
of
purine–pyrimidine metabolism
Purine metabolism
Anabolism
Adenylosuccinate lyase deficiency
Adenosine Monophosphate Deaminase Deficiency type 1
Nucleotide salvage
Lesch–Nyhan syndrome
/
Hyperuricemia
Adenine phosphoribosyltransferase deficiency
Catabolism
Adenosine deaminase deficiency
Purine nucleoside phosphorylase deficiency
Xanthinuria
Gout
Mitochondrial neurogastrointestinal encephalopathy syndrome
Pyrimidine metabolism
Anabolism
Orotic aciduria
Miller syndrome
Catabolism
Dihydropyrimidine dehydrogenase deficiency
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