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Dihydropyrimidine Dehydrogenase Deficiency

Subscribe to New Research on Dihydropyrimidine Dehydrogenase Deficiency

An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.

Also Known As:

Dihydropyrimidinuria; Familial Pyrimidinemia; Thymine-Uraciluria, Hereditary; Deficiencies, Dihydropyrimidine Dehydrogenase; Deficiency, Dihydropyrimidine Dehydrogenase; Dehydrogenase Deficiencies, Dihydropyrimidine; Dehydrogenase Deficiency, Dihydropyrimidine; Dihydropyrimidine Dehydrogenase Deficiencies; Hereditary Thymine-Uraciluria; Hereditary Thymine-Uracilurias; Thymine Uraciluria, Hereditary; Thymine-Uracilurias, Hereditary

Networked: 68 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Dihydropyrimidine Dehydrogenase Deficiency
2.	Colorectal Neoplasms (Colorectal Cancer)
3.	Leukoencephalopathies
4.	Ornithine Carbamoyltransferase Deficiency Disease
5.	Anaplastic Large-Cell Lymphoma (Ki 1 Lymphoma)

Experts

1.	van Gennip, A H: 5 articles (01/2006 - 01/2000)
2.	van Kuilenburg, A B: 5 articles (03/2004 - 01/2000)
3.	Diasio, Robert: 3 articles (01/2006 - 08/2004)
4.	Wada, Y: 3 articles (04/2000 - 01/2000)
5.	Lam, C W: 2 articles (06/2013 - 04/2003)
6.	Cubero, Daniel I G: 2 articles (01/2013 - 07/2012)
7.	Del Giglio, Auro: 2 articles (01/2013 - 07/2012)
8.	van Kuilenburg, A B P: 2 articles (01/2006 - 10/2004)
9.	Ezzeldin, Hany: 2 articles (09/2004 - 08/2004)
10.	Van Gennip, Albert H: 2 articles (04/2004 - 09/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dihydropyrimidine Dehydrogenase Deficiency:

1.	Fluorouracil (Carac)FDA LinkGeneric 07/24/1998 - "Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity." 05/01/2013 - "To date, compartmental Michaelis-Menten elimination-based modeling has proven to be a sensitive and accurate tool for analyzing the pharmacokinetics of 5-FU and to identify patients with a dihydropyrimidine dehydrogenase deficiency. " 01/01/2012 - "High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity." 01/01/2008 - "[Severe 5-fluorouracil induced toxicity associated with dihydropyrimidine dehydrogenase deficiency]." 11/01/2006 - "In the case of dihydropyrimidine dehydrogenase deficiency, 5-FU administration often can be safely continued with an individual dose adjustment."
2.	UracilIBA 01/01/1989 - "A screening method for dihydropyrimidine dehydrogenase deficiency with colorimetric detection of urinary uracil." 01/01/1989 - "Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency." 01/01/2013 - "Tegafur-uracil (UFT) in lower doses is safe for the treatment of colorectal cancer in patients with partial dihydropyrimidine dehydrogenase deficiency: a proof of principle." 07/01/2012 - "Tegafur-uracil is a safe alternative for the treatment of colorectal cancer in patients with partial dihydropyrimidine dehydrogenase deficiency: a proof of principle." 03/01/2012 - "Plasma endogenous purines confirmed elevated plasma thymine (21 μmol/L) and uracil (29 μmol/L), also consistent with dihydropyrimidine dehydrogenase deficiency. "
3.	ThymineIBA 04/01/2003 - "Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria." 01/01/2000 - "HPLC/ESI tandem-MS of liquid urine or urine soaked filter-paper strips for the detection of thymine-uraciluria and dihydropyrimidinuria." 01/01/1985 - "Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. " 08/31/1984 - "Three unrelated patients with excessive thymine-uraciluria due to dihydropyrimidine dehydrogenase deficiency are described. " 08/31/1984 - "Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. "
4.	pyrimidineIBA 01/01/2016 - "Enzymatic deficiencies in pyrimidine catabolism lead to mitochondrial neurogastrointestinal encephalopathy (MNGIE), pyrimidinuria, dihydropyrimidinuria, ureidopropionic aciduria, and other disorders. " 01/01/1991 - "Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism." 01/01/2000 - "We supeculated that this method could be used to detect pyrimidine metabolism disorders, such as dihydropyrimidinuria, dihydropyrimidine dehydrogenase deficiency and hereditary orotic aciduria. " 01/01/2012 - "Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme of the pyrimidine degradation pathway and a deficiency of this enzyme is responsible for a rare inborn metabolic syndrome characterized by dihydropyrimidinuria. " 07/05/2001 - "Inborn errors of pyrimidine degradation, dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency, are less rare than has generally been assumed. "
5.	dihydropyrimidinaseIBA 06/01/2013 - "Dihydropyrimidinase deficiency is an autosomal recessive inborn error of metabolism characterised by the presence of dihydropyrimidinuria. " 06/01/2013 - "Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria." 01/01/2012 - "Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings." 07/15/2003 - "Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency." 09/01/1998 - "Dihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable clinical phenotype. "
6.	capecitabine (Xeloda)FDA Link 01/01/2014 - "Toxicity Associated with Capecitabine in Patients Suffering from Dihydropyrimidine Dehydrogenase Deficiency." 01/01/2015 - "[Suspected dihydropyrimidine dehydrogenase deficiency in a patient receiving capecitabine as adjuvant chemotherapy after colon resection]." 01/01/2006 - "Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency?" 11/01/2013 - "[A case in which dihydropyrimidine dehydrogenase deficiency was strongly suspected during adjuvant chemotherapy with capecitabine for colon cancer]." 03/27/2004 - "[Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]."
7.	Adenylosuccinate lyase deficiencyIBA 04/01/2000 - "The expected abnormalities were easily found in samples from patients with purine nucleoside phosphorylase deficiency, ornithine transcarbamylase deficiency, molybdenum cofactor deficiency, adenylosuccinase deficiency, or dihydropyrimidine dehydrogenase deficiency. " 10/01/2000 - "These include phenylketonuria, histidinemia, adenylosuccinate lyase deficiency, dihydropyrimidine dehydrogenase deficiency, 5'-nucleotidase superactivity, and phosphoribosylpyrophosphate synthetase deficiency. " 01/01/2014 - "In the last thirteen years, we have studied urine/plasma specimens from about 1600 patients and we have identified 35 patients: eight patients with adenylosuccinate lyase deficiency, eight patients with hypoxanthine-guanine phosphoribosyltransferase deficiency, one patient with purine nucleoside phosphorylase deficiency, ten patients with xanthine dehydrogenase deficiency, six patients with molybdenum cofactor deficiency and two patients with dihydropyrimidine dehydrogenase deficiency. " 10/20/1995 - "As this system permits the simultaneous determination of urinary orotic acid, uracil, dihydrouracil, pseudouridine, xanthine, 2,8-dihydroxyadenine and succinyladenosine, it offers a useful method for the detection of orotic aciduria, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, xanthinuria, adenine phosphoribosyltransferase deficiency and adenylosuccinase deficiency."
8.	dihydrouracilIBA 09/01/2009 - "The dihydrouracil/uracil ratio in plasma, clinical and genetic analysis for screening of dihydropyrimidine dehydrogenase deficiency in colorectal cancer patients treated with 5-fluorouracil." 01/01/2016 - "Here we describe an LCMS method for determination of uracil, thymine, thymidine, dihydrouracil, and dihydrothymine that are diagnostic biomarkers of MNGIE, pyrimidinuria, and dihydropyrimidinuria. " 08/01/2002 - "We established the first monoclonal antibody that reacted with uracil and thymine but not with pseudouridine, dihydrouracil, dihydrothymine, cytosine, uridine, or N-carbamyl-beta-alanine at the concentration of 100 microg/ml. The monoclonal antibody can be used to develop a simple screening assay for patients with dihydropyrimidine dehydrogenase deficiency. " 10/20/1995 - "As this system permits the simultaneous determination of urinary orotic acid, uracil, dihydrouracil, pseudouridine, xanthine, 2,8-dihydroxyadenine and succinyladenosine, it offers a useful method for the detection of orotic aciduria, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, xanthinuria, adenine phosphoribosyltransferase deficiency and adenylosuccinase deficiency."
9.	Biological Markers (Surrogate Marker)IBA 02/01/2014 - "Seven colorectal cancer biomarkers were evaluated, five of which (EGFR gene expression, K-ras G13D gene mutation, B-raf V600E gene mutation, dihydropyrimidine dehydrogenase deficiency, and UGT1A1 genotyping) were considered emerging. " 01/01/2016 - "Here we describe an LCMS method for determination of uracil, thymine, thymidine, dihydrouracil, and dihydrothymine that are diagnostic biomarkers of MNGIE, pyrimidinuria, and dihydropyrimidinuria. "
10.	ThymidineIBA 05/01/2006 - "This method will be useful not only for thymidine level follow-up during dialysis in MNGIE patients but also for the improvement of the diagnosis or diagnostic suspect in other pyrimidine defects such as dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinase deficiency and ureidopropionase deficiency." 01/01/2016 - "Here we describe an LCMS method for determination of uracil, thymine, thymidine, dihydrouracil, and dihydrothymine that are diagnostic biomarkers of MNGIE, pyrimidinuria, and dihydropyrimidinuria. "

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 12/01/2009 - "Dihydropyrimidine dehydrogenase deficiency should be excluded and ideally an alternative chemotherapy regime sought. " 01/01/1997 - "Dihydropyrimidine dehydrogenase deficiency: a pharmacogenetic defect causing severe adverse reactions to 5-fluorouracil-based chemotherapy." 06/01/2011 - "A case report demonstrating the clinical presentation of a cicatricial ectropion caused by (5-FU) chemotherapy toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. " 06/01/2011 - "5-fluorouracil chemotherapy in patients with dihydropyrimidine dehydrogenase deficiency, can give rise to ocular and cutaneous toxicity. " 12/01/2004 - "Lethal toxicity after 5-fluorouracil chemotherapy and its possible relationship to dihydropyrimidine dehydrogenase deficiency: a case report and review of the literature."
2.	Adjuvant Chemotherapy 01/01/2010 - "[Severe bone marrow suppression during adjuvant chemotherapy for gastric cancer by S-1 and its possible relationship to dihydropyrimidine dehydrogenase deficiency]." 01/01/2015 - "[Suspected dihydropyrimidine dehydrogenase deficiency in a patient receiving capecitabine as adjuvant chemotherapy after colon resection]." 11/01/2013 - "[A case in which dihydropyrimidine dehydrogenase deficiency was strongly suspected during adjuvant chemotherapy with capecitabine for colon cancer]."
3.	Aftercare (After-Treatment) 03/27/2004 - "[Severe toxicity after treatment with capecitabine and fluorouracil due to partial dihydropyrimidine dehydrogenase deficiency]."