Dihydropyrimidine dehydrogenase deficiency
Other Names for this Disease
- DPD deficiency
- Familial pyrimidinemia
- Hereditary thymine-uraciluria
Your QuestionI 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?
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Questions on this page
- What is dihydropyrimidine dehydrogenase (DPD) deficiency?
- What are the clinical signs and symptoms in infants and children who have the inborn error of metabolism form of dihydropyrimidine dehydrogenase (DPD) deficiency?
- What causes dihydropyrimidine dehydrogenase (DPD) deficiency?
- How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed?
- How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children?
- Are there any specific articles that speak about infants and children that suffer from dihydropyrimidine dehydrogenase (DHD) deficiency?
All patients, including infants and children, with DPD deficiency exhibit the same clinical sign, complete or near complete absence of dihydropyrimidine dehydrogenase (DPD) enzyme activity. The symptoms of DPD deficiency, however, vary greatly from person to person, where some patients have not symptoms and others display any or all of the following:
- intellectual disability
- growth retardation
- unusual physical features
- psychomotor retardation
- increased muscle tone
- hyperreflexia (exaggerated reflexes)
Some documented cases have also presented with other findings such as enlarged liver and spleen (hepatosplenomegaly) and abnormal eye findings; however, these symptoms appear to be rarer.
Mutations in the DPYD gene result in deficiencies (to various degrees) of functional DPD, interfering with the breakdown of uracil and thymine in cells. This results in excessive amounts of uracil and thymine in the blood, urine, and the fluid that surrounds the brain and spinal cord. It is currently poorly understood exactly how this cascade of events causes the signs and symptoms of the condition.
The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
- Dihydropyrimidine dehydrogenase deficiency. Genetics Home Reference. November 2011; http://ghr.nlm.nih.gov/condition/dihydropyrimidine-dehydrogenase-deficiency. Accessed 11/28/2012.
- Gibson KM, Jakobs C. Disorders of B- y-Amino Acids in Free and Peptide-Linked Forms. In: Scriver, Beaudet, Valle, Sly. The Metabolic & Molecular Bases on Inherited Disease. The McGraw-Hill Companies, Inc; 2001;
- Kamatani N, Vincent MF, van den Berghe G. Purine and Pyrimidine Metabolism. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Emery and Rimoin's Principles and Practice of Medical Genetics. Philadelphia: Churchilll Livingstone; 2007;
- Ezzeldin H, Diasio R. Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. Clin Colorectal Cancer. September 2004; 4(3):181-189.