Dihydropyrimidine Dehydrogenase Deficiency: Biochemical and Genetic Basis

  • R. A. De Abreu
Conference paper


The number of known inherited defects of pyrimidine metabolism is limited. Only four enzyme defects of pyrimidine metabolism have been described in association with inborn errors of metabolism:
  • UMP-synthetase deficiency, generally ascribed as hereditary orotic aciduria

  • Pyrimidine-5′-nucleotidase deficiency

  • Dihydropyrimidine dehydrogenase deficiency

  • Dihydropyrimidine amidohydrolase deficiency (a patient with this deficiency has been reported recently at the meeting of the Society of Inherited Metabolic Disease (SIMD) in Santa Fé [1])


Dihydropyrimidine Dehydrogenase Pyrimidine Metabolism Orotic Aciduria Dihydropyrimidine Dehydrogenase Deficiency Dihydropyrimidine Dehydrogenase Activity 
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© Springer Verlag, Berlin Heidelberg 1993

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  • R. A. De Abreu

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