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Dihydropyrimidine Dehydrogenase Deficiency: Biochemical and Genetic Basis

  • R. A. De Abreu
Conference paper

Abstract

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])

Keywords

Dihydropyrimidine Dehydrogenase Pyrimidine Metabolism Orotic Aciduria Dihydropyrimidine Dehydrogenase Deficiency Dihydropyrimidine Dehydrogenase Activity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Verlag, Berlin Heidelberg 1993

Authors and Affiliations

  • R. A. De Abreu

There are no affiliations available

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