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Dihydropyrimidine dehydrogenase deficiency

Other Names for this Disease
  • DPD deficiency
  • Familial pyrimidinemia
  • Hereditary thymine-uraciluria
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Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signs and symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior.[1]  All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.[1]
Last updated: 8/20/2012


  1. Dihydropyrimidine dehydrogenase deficiency. Genetics Home Reference. November 2011; Accessed 11/28/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Dihydropyrimidine dehydrogenase deficiency. This website is maintained by the National Library of Medicine.

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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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