Dihydropyrimidine Dehydrogenase Deficiency

Common Name(s)

Dihydropyrimidine Dehydrogenase Deficiency

Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signs and symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior.   All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dihydropyrimidine Dehydrogenase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dihydropyrimidine Dehydrogenase Deficiency" returned 18 free, full-text research articles on human participants. First 3 results:

Detection of complete dihydropyrimidine dehydrogenase deficiency in a Tunisian family using a simple phenotypic test.
 

Author(s): Arij Mani, Manel Nouira, Slim Ben Ahmed, Saad Saguem

Journal: Indian J Pharmacol. ;45(4):414-5.

 

Last Updated: 9 Sep 2013

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Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.
 

Author(s): Artur Mazur, Szymon Figurski, Anna Płoskoń, Judith Meijer, Lida Zoetekouw, Stanisława Watróbska, Jolanta Sykut-Cegielska, Wanda Gradowska, André B P van Kuilenburg

Journal: Acta Biochim. Pol.. 2008 ;55(4):787-90.

 

Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare defect of the first step of the pyrimidine catabolic pathway. Patients with a complete enzyme deficiency may be clinically asymptomatic or suffer from neurological abnormalities of various severity. We report a case of an ...

Last Updated: 8 Jan 2009

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Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians.
 

Author(s): Lori Kay Mattison, Jeanne Fourie, Renee A Desmond, Anil Modak, Muhammad Wasif Saif, Robert B Diasio

Journal: Clin. Cancer Res.. 2006 Sep;12(18):5491-5.

 

African-American patients with colorectal cancer were observed to have increased 5-fluorouracil (5-FU)-associated toxicity (leukopenia and anemia) and decreased overall survival compared with Caucasian patients. One potential source for this disparity may be differences in 5-FU metabolism. ...

Last Updated: 26 Sep 2006

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dihydropyrimidine Dehydrogenase Deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

[Molecular toxicological mechanism of the lethal interactions of the new antiviral drug, sorivudine, with 5-fluorouracil prodrugs and genetic deficiency of dihydropyrimidine dehydrogenase].
 

Author(s): Tadashi Watabe, Kenichiro Ogura, Takahito Nishiyama

Journal: Yakugaku Zasshi. 2002 Aug;122(8):527-35.

 

In 1993, there were 18 acute deaths in Japanese patients who had the viral disease herpes zoster and were treated with the new antiviral drug sorivudine (SRV, 1-beta-D-arabinofuranosyl-(E)-5-(2-bromovinyl)uracil). All the dead patients had received a 5-fluorouracil (5-FU) prodrug ...

Last Updated: 21 Aug 2002

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pre-therapeutic Identification of Dihydropyrimidine Dehydrogenase Gene (DPD) Deficiency for Predicting Toxicity to Fluoropyrimidines
 

Status: Recruiting

Condition Summary: Colorectal Cancer; Intravenous 5 Fluorouracile

 

Last Updated: 5 Mar 2012

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Predicting Response to Capecitabine in Women With Metastatic Breast Cancer
 

Status: Recruiting

Condition Summary: Breast Cancer

 

Last Updated: 5 Aug 2009

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