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:
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UMP-synthetase deficiency, generally ascribed as hereditary orotic aciduria
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Pyrimidine-5′-nucleotidase deficiency
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Dihydropyrimidine dehydrogenase deficiency
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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])
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De Abreu, R.A. (1993). Dihydropyrimidine Dehydrogenase Deficiency: Biochemical and Genetic Basis. In: Gresser, U. (eds) Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-84962-6_24
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DOI: https://doi.org/10.1007/978-3-642-84962-6_24
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