Identifying common and rare variants associated with decreased or absent dihydropyrimidine dehydrogenase (DPD) enzyme activity in individuals with suspected DPD deficiency. This is a pharmacogenomics test associated with 5-fluorouracil and capecitabine drug sensitivity.

The DPYD gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine when they are not needed. Learn about this gene and related health conditions.

Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides, thymine and uracil. The severity of DPD deficiency can vary. Most people have no obvious signs or symptoms, but some develop serious neurological problems as infants.

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.

DPD deficiency happens when we have low or no levels of the DPD enzyme. The cause of this is usually changes (mutations) in the DPYD gene. It is very rare to have no DPD in the body (a complete DPD deficiency), but it is more common to have low …

Substantial evidence supports the use of DPYD genotyping for guiding fluoropyrimidine dosage/use. Variation in the DPYD gene can result in normal (NM), intermediate (IM) and poor (PM) drug-metabolizing genotypes.

2024年12月24日 · DPYD (Dihydropyrimidine Dehydrogenase) is a Protein Coding gene. Diseases associated with DPYD include Dihydropyrimidine Dehydrogenase Deficiency and Bunion. Among its related pathways are Fluoropyrimidine activity and Metabolism of nucleotides.

DPYD is a gene that produces an enzyme called dihydropyrimidine dehydrogenase (known as DPD). The DPD enzyme helps the body to break down some types of chemotherapy. This includes the drugs capecitabine, 5-fluorouracil (5-FU) and tegafur.

This article provides the essential knowledge base for oncologists to have an informed discussion with their patients about the genetic testing for DPYD. This document assists practitioners in quickly evaluating whether, when, where, and how to order a DPYD genetic test.

In 2018, a patient received capecitabine without prior testing for dihydropyrimidine dehydrogenase (DPYD) and later presented with vomiting, rash, and diarrhea. The hospital failed to provide uridine triacetate in a timely fashion, and the patient died.