The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Agenesis of corpus callosum||Occasional
(present in 5%-29% of cases)
|Autosomal recessive inheritance||-|
|Delayed speech and language development||-|
|Failure to thrive||-|
|Reduced dihydropyrimidine dehydrogenase activity||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My doctor has prescribed Fluorouracil to treat pre-cancerous spots on my hands. To my knowledge, I don't have any family history of dihydropyrimidine dehydrogenase (DPD) deficiency, but I have read that up to 8% of the population has some form of this, which can be problematic when Fluorouracil is used. Should I be tested prior to use and is there an alternative course of treatment? See answer
I recently found out I was a carrier. I would like to be clear that I can only pass the disease on to a child if the father is also a carrier. Lastly I am still a little confused when it comes to how it affects exposure to 5-fluorouracil. Does this mean that if I were to get cancer in the future I would not be able to be treated with chemotherapy? See answer
I am interested in finding out information related to dihydropyrimidine dehydrogenase (DPD) in children - I am not interested in the form that presents after exposure to the cancer drug 5-fluorouracil. My son is about to turn 5 years old and was diagnosed with DPD at 4 months. Are there any specific articles that speak about infants and children that suffer from the deficiency? See answer