Dihydropyrimidine Dehydrogenase DeficiencySymptoms, Doctors, Treatments, Advances & More
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.
Umhc-Sylvester Comprehensive Cancer Center
Peter Hosein is a Hematologist practicing medicine in Miami, Florida. Dr. Hosein is rated as an Elite provider by MediFind in the treatment of Dihydropyrimidine Dehydrogenase Deficiency. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Pancreatic Cancer, Dihydropyrimidine Dehydrogenase Deficiency, Familial Pancreatic Cancer, Pancreaticoduodenectomy, and Pancreatectomy.
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 Lymphocytic Colitis.
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...
Summary: The goal of this clinical trial is to test the safety of the trifluridine/tipiracil as replacement of fluoropyrimidines based chemotherapy as first line metastatic colorectal or gastroesophageal cancer regimens in patients with dihydropyrimidine dehydrogenase (DPD) deficiency. The main questions it aims to answer are: * Is this alternative chemotherapy option a better option in term of safety for ...
Published Date: September 01, 2015
Published By: National Institutes of Health