Learn About Dihydropyrimidine Dehydrogenase Deficiency

What is the definition of Dihydropyrimidine Dehydrogenase Deficiency?

Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others.

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What are the causes of Dihydropyrimidine Dehydrogenase Deficiency?

Dihydropyrimidine dehydrogenase deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are pyrimidines, which are one type of nucleotide. Nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.

How prevalent is Dihydropyrimidine Dehydrogenase Deficiency?

Severe dihydropyrimidine dehydrogenase deficiency, with its early-onset neurological symptoms, is a rare disorder. Its prevalence is unknown. However, between 2 and 8 percent of the general population may be vulnerable to toxic reactions to fluoropyrimidine drugs caused by otherwise asymptomatic dihydropyrimidine dehydrogenase deficiency.

Is Dihydropyrimidine Dehydrogenase Deficiency an inherited disorder?

Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Depending on the severity of these mutations, people with two mutated copies of the DPYD gene in each cell may exhibit the signs and symptoms of this disorder, or they may be generally asymptomatic but at risk for toxic reactions to fluoropyrimidine drugs.

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What are the latest Dihydropyrimidine Dehydrogenase Deficiency Clinical Trials?
The PhOCus Trial: Implementation of Pharmacogenomic Testing in Oncology Care

Summary: Doctors leading this study hope to find out if giving study participants' genetic information to cancer care providers will help personalize chemotherapy dosing decisions and decrease common chemotherapy side effects. Doctors leading the study will collect genetic information from study participants using pharmacogenomics/genotyping. Pharmacogenomics is the study of how the differences in our gene...

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Who are the sources who wrote this article ?

Published Date: September 01, 2015Published By: National Institutes of Health

What are the Latest Advances for Dihydropyrimidine Dehydrogenase Deficiency?
Treating patients with dihydropyrimidine dehydrogenase (DPD) deficiency with fluoropyrimidine chemotherapy since the onset of routine prospective testing-The experience of a large oncology center in the United Kingdom.
A Japanese Patient with Gastric Cancer and Dihydropyrimidine Dehydrogenase Deficiency Presenting with DPYD Variants.
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