Dihydropyrimidine Dehydrogenase DeficiencySymptoms, Doctors, Treatments, Advances & More
Dihydropyrimidine Dehydrogenase Deficiency Overview
Learn About 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.
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.
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.
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.
Olivier Capitain practices practicing medicine in Nantes, France. Mr. Capitain is rated as an Elite expert by MediFind in the treatment of Dihydropyrimidine Dehydrogenase Deficiency. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Dihydropyrimidine Dehydrogenase Deficiency, Head and Neck Squamous Cell Carcinoma (HNSCC), Colorectal Cancer, Anal Cancer, and Laryngectomy.
Roger Faroux practices practicing medicine in La Roche, France. Mr. Faroux is rated as an Elite expert by MediFind in the treatment of Dihydropyrimidine Dehydrogenase Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Dihydropyrimidine Dehydrogenase Deficiency, Colorectal Cancer, Pancreatic Cancer, and Collagenous Colitis.
Joseph Ciccolini practices practicing medicine in Marseille, France. Mr. Ciccolini is rated as an Elite expert by MediFind in the treatment of Dihydropyrimidine Dehydrogenase Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Dihydropyrimidine Dehydrogenase Deficiency, Breast Cancer, Lung Cancer, and Non-Small Cell Lung Cancer (NSCLC).
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers...
Summary: The goal of this clinical trial is to establish guidelines for fluoropyrimidine dose reduction according to uracilemia in patients with DPD deficiency in the treatment of digestive cancers. The main question it aims to answer is: \- Which reduction dose of fluoropyrimidine is needed for patient with DPD deficiency? Participants will: * Take the treatment with the reduction of dose stated by the pr...
Published Date: September 01, 2015
Published By: National Institutes of Health