Dihydropyrimidine dehydrogenase deficiency
Dernière mise à jour 18 Aug 2020
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Dihydropyrimidine dehydrogenase deficiency is a disorder characterised by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others.
Description
Dihydropyrimidine dehydrogenase deficiency is a disorder characterised by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others.
In people with severe dihydropyrimidine dehydrogenase deficiency, the disorder becomes apparent in infancy. These affected individuals have neurological problems such as recurrent seizures (epilepsy), intellectual disability, a small head size (microcephaly), increased muscle tone (hypertonia), delayed development of motor skills such as walking, and autistic behaviors that affect communication and social interaction. Other affected individuals are asymptomatic, which means they do not have any signs or symptoms of the condition. Individuals with asymptomatic dihydropyrimidine dehydrogenase deficiency may be identified only by laboratory testing.
People with dihydropyrimidine dehydrogenase deficiency, including those who otherwise exhibit no symptoms, are vulnerable to severe, potentially life-threatening toxic reactions to certain drugs called fluoropyrimidines that are used to treat cancer. Common examples of these drugs are 5-fluorouracil and capecitabine. These drugs are not broken down efficiently by people with dihydropyrimidine dehydrogenase deficiency and build up to toxic levels in the body (fluoropyrimidine toxicity). Severe inflammation and ulceration of the lining of the gastrointestinal tract (mucositis) may occur, which can lead to signs and symptoms including mouth sores, abdominal pain, bleeding, nausea, vomiting, and diarrhea. Fluoropyrimidine toxicity may also lead to low numbers of white blood cells (neutropenia), which increases the risk of infections. It can also be associated with low numbers of platelets in the blood (thrombocytopenia), which impairs blood clotting and may lead to abnormal bleeding (hemorrhage). Redness, swelling, numbness, and peeling of the skin on the palms and soles (hand-foot syndrome); shortness of breath; and hair loss may also occur.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Dihydropyrimidinuria
DPD deficiency
Familial pyrimidemia
Hereditary thymine-uraciluria
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Lectures complémentaires et références
- Dihydropyrimidine dehydrogenase deficiency; MedlinePlus, National Library of Medicine.
- Al-Sanna'a NA, Van Kuilenburg AB, Atrak TM, Abdul-Jabbar MA, Van Gennip AH. Dihydropyrimidine dehydrogenase deficiency presenting at birth. J Inherit Metab Dis. 2005;28(5):793-6. doi: 10.1007/s10545-005-4218-0.
- Caudle KE, Thorn CF, Klein TE, Swen JJ, McLeod HL, Diasio RB, Schwab M. Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Clin Pharmacol Ther. 2013 Dec;94(6):640-5. doi: 10.1038/clpt.2013.172. Epub 2013 Aug 29.
- Ciccolini J, Gross E, Dahan L, Lacarelle B, Mercier C. Routine dihydropyrimidine dehydrogenase testing for anticipating 5-fluorouracil-related severe toxicities: hype or hope? Clin Colorectal Cancer. 2010 Oct;9(4):224-8. doi: 10.3816/CCC.2010.n.033.
- Mattison LK, Fourie J, Desmond RA, Modak A, Saif MW, Diasio RB. Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. Clin Cancer Res. 2006 Sep 15;12(18):5491-5. doi: 10.1158/1078-0432.CCR-06-0747.
- Saif MW, Mattison L, Carollo T, Ezzeldin H, Diasio RB. Dihydropyrimidine dehydrogenase deficiency in an Indian population. Cancer Chemother Pharmacol. 2006 Sep;58(3):396-401. doi: 10.1007/s00280-005-0174-5. Epub 2006 Jan 19.
- van Kuilenburg AB, De Abreu RA, van Gennip AH. Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. Ann Clin Biochem. 2003 Jan;40(Pt 1):41-5. doi: 10.1258/000456303321016150.
- van Kuilenburg AB, Dobritzsch D, Meinsma R, Haasjes J, Waterham HR, Nowaczyk MJ, Maropoulos GD, Hein G, Kalhoff H, Kirk JM, Baaske H, Aukett A, Duley JA, Ward KP, Lindqvist Y, van Gennip AH. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochem J. 2002 May 15;364(Pt 1):157-63. doi: 10.1042/bj3640157.
- van Kuilenburg AB, Meijer J, Mul AN, Hennekam RC, Hoovers JM, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Hum Genet. 2009 Jun;125(5-6):581-90. doi: 10.1007/s00439-009-0653-6. Epub 2009 Mar 19.
- Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711.
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