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Dihydropyrimidine Dehydrogenase Deficiency

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Definition: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.      Other names Thymine-Uracilurias, Hereditary; Thymine Uraciluria, Hereditary; Hereditary Thymine-Uracilurias; Hereditary Thymine-Uraciluria; Dihydropyrimidine Dehydrogenase Deficiencies; Dehydrogenase Deficiency, Dihydropyrimidine; Dehydrogenase Deficiencies, Dihydropyrimidine; Deficiency, Dihydropyrimidine Dehydrogenase; Deficiencies, Dihydropyrimidine Dehydrogenase; Thymine-Uraciluria, Hereditary; Familial Pyrimidinemia; Dihydropyrimidinuria
 
SubstanceCAS Registry & nameCategoriesSource
5 alpha Fluorouracil toxicity  0   *Dihydropyrimidine Dehydrogenase Deficiency.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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