Raras
Buscar doenças, sintomas, genes...
Deficiência de diidropirimidina desidrogenase
ORPHA:1675CID-10 · E79.8CID-11 · 5C55.1OMIM 274270DOENÇA RARA

A deficiência de dihidropirimidina desidrogenase (DPD) é uma condição na qual o corpo não consegue quebrar os nucleotídeos timina e uracila. A deficiência de DPD pode ter uma ampla variedade de gravidade; alguns indivíduos podem ter vários problemas neurológicos, enquanto outros não apresentam sinais e sintomas. Os sinais e sintomas em indivíduos gravemente afetados começam na infância e podem incluir convulsões, deficiência intelectual, microcefalia, aumento do tônus ​​muscular (hipertonia), atraso nas habilidades motoras e comportamento autista. Todos os indivíduos com a doença, independentemente da presença ou gravidade dos sintomas, correm o risco de reações tóxicas graves a medicamentos chamados fluoropirimidinas, usados ​​para tratar o câncer. Indivíduos sem sintomas podem ser diagnosticados apenas por exames laboratoriais ou após exposição a fluoropirimidinas. A deficiência de DPD é causada por mutações no gene DPYD e é herdada de forma autossômica recessiva.

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Introdução

O que você precisa saber de cara

📋

A deficiência de dihidropirimidina desidrogenase (DPD) é uma condição na qual o corpo não consegue quebrar os nucleotídeos timina e uracila. A deficiência de DPD pode ter uma ampla variedade de gravidade; alguns indivíduos podem ter vários problemas neurológicos, enquanto outros não apresentam sinais e sintomas. Os sinais e sintomas em indivíduos gravemente afetados começam na infância e podem incluir convulsões, deficiência intelectual, microcefalia, aumento do tônus ​​muscular (hipertonia), atraso nas habilidades motoras e comportamento autista. Todos os indivíduos com a doença, independentemente da presença ou gravidade dos sintomas, correm o risco de reações tóxicas graves a medicamentos chamados fluoropirimidinas, usados ​​para tratar o câncer. Indivíduos sem sintomas podem ser diagnosticados apenas por exames laboratoriais ou após exposição a fluoropirimidinas. A deficiência de DPD é causada por mutações no gene DPYD e é herdada de forma autossômica recessiva.

Pesquisas ativas
2 ensaios
6 total registrados no ClinicalTrials.gov
Publicações científicas
196 artigos
Último publicado: 2026 Mar 26

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: E79.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (6)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
18 sintomas
👁️
Olhos
7 sintomas
😀
Face
7 sintomas
📏
Crescimento
3 sintomas
🫘
Rins
2 sintomas
👂
Ouvidos
2 sintomas

+ 32 sintomas em outras categorias

Características mais comuns

90%prev.
Uracilúria
Muito frequente (99-80%)
90%prev.
Atividade reduzida da diidropirimidina desidrogenase
Muito frequente (99-80%)
55%prev.
Anormalidade no EEG
Frequente (79-30%)
55%prev.
Atraso global do desenvolvimento
Frequente (79-30%)
55%prev.
Dificuldade específica de aprendizagem
Frequente (79-30%)
55%prev.
Hipotonia do lactente
Frequente (79-30%)
75sintomas
Muito frequente (2)
Frequente (8)
Ocasional (57)
Sem dados (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.

UracilúriaUraciluria
Muito frequente (99-80%)90%
Atividade reduzida da diidropirimidina desidrogenaseReduced dihydropyrimidine dehydrogenase activity
Muito frequente (99-80%)90%
Anormalidade no EEGEEG abnormality
Frequente (79-30%)55%
Atraso global do desenvolvimentoGlobal developmental delay
Frequente (79-30%)55%
Dificuldade específica de aprendizagemSpecific learning disability
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico196PubMed
Últimos 10 anos186publicações
Pico202124 papers
Linha do tempo
2026Hoje · 2026🧪 2008Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

DPYDDihydropyrimidine dehydrogenase [NADP(+)]Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in pyrimidine base degradation (PubMed:1512248). Catalyzes the reduction of uracil and thymine (PubMed:1512248). Also involved the degradation of the chemotherapeutic drug 5-fluorouracil (PubMed:1512248)

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (1)
Pyrimidine catabolism
MECANISMO DE DOENÇA

Dihydropyrimidine dehydrogenase deficiency

A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and intellectual disability. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
43.0 TPM
Pulmão
29.6 TPM
Adipose Visceral Omentum
24.0 TPM
Tecido adiposo
23.3 TPM
Cervix Ectocervix
23.0 TPM
OUTRAS DOENÇAS (2)
dihydropyrimidine dehydrogenase deficiency1p21.3 microdeletion syndrome
HGNC:3012UniProt:Q12882

Variantes genéticas (ClinVar)

227 variantes patogênicas registradas no ClinVar.

🧬 DPYD: NM_000110.4(DPYD):c.2442+1G>T ()
🧬 DPYD: NC_000001.10:g.(98060723_98144650)_(98206036_98293669)del ()
🧬 DPYD: NM_000110.4(DPYD):c.893C>T (p.Thr298Met) ()
🧬 DPYD: NM_000110.4(DPYD):c.12dup (p.Leu5fs) ()
🧬 DPYD: NM_000110.4(DPYD):c.475G>T (p.Ala159Ser) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 287 variantes classificadas pelo ClinVar.

287
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
DPYD: NC_000001.10:g.(98060723_98144650)_(98206036_98293669)del [Likely pathogenic]
DPYD: NM_000110.4(DPYD):c.12dup (p.Leu5fs) [Pathogenic]
DPYD: NM_000110.4(DPYD):c.1820_1821del (p.Phe607fs) [Pathogenic]
DPYD: NM_000110.4(DPYD):c.2202_2206dup (p.Asn736fs) [Pathogenic]
DPYD: NM_000110.4(DPYD):c.2179+1G>A [Likely pathogenic]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Deficiência de diidropirimidina desidrogenase

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
95 papers (10 anos)
#1

5-Fluorouracil-induced acute leukoencephalopathy in the absence of dihydropyrimidine dehydrogenase deficiency: A case report.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners2026 Jan 29

Introduction5-Fluorouracil (5-FU) is a chemotherapeutic agent used in various malignancies. 5-FU-induced leukoencephalopathy is a rare but reversible neurotoxic effect occurring within days of administration. Symptoms include confusion, agitation, and cognitive disturbances, with severe cases potentially causing coma. Diagnosis is supported by magnetic resonance imaging (MRI) showing characteristic brain changes. Treatment involves discontinuing 5-FU and initiating supportive care. Most patients recover within one week, but relapse may occur with repeated exposure, making early recognition critical.Case reportA 42-year-old male with recurrent Stage IV gastric adenocarcinoma and chronic kidney disease developed progressive 5-FU-related leukoencephalopathy after repeated exposure. MRI findings and symptoms of confusion, disorientation, and memory deficits were consistent with 5-FU leukoencephalopathy. Initial work-up was inconclusive, therefore, treatment was continued. Neurologic symptoms worsened after further cycles, leading to chemotherapy discontinuation and surgical resection. Disease recurrence led to reinitiation of modified 5-FU therapy, triggering acute neurotoxicity confirmed by MRI.Management and outcomeThe patient was managed by discontinuing 5-FU, beginning high-dose intravenous thiamine and methylprednisolone, and providing supportive care. Neurologic symptoms including confusion, facial diplegia, and unsteady gait gradually resolved. By Day 9, he returned to baseline mental status without deficits.DiscussionEarly recognition and intervention in 5-FU-induced leukoencephalopathy is crucial, especially in patients with renal dysfunction or repeated exposures. Dihydropyrimidine dehydrogenase (DPD) deficiency has not been directly implicated in this condition. Metabolic disruption and thiamine depletion contribute to pathogenesis. Prompt 5-FU discontinuation and initiation of supportive care can hasten recovery. Clinical vigilance is imperative in patients with known risk factors.

#2

Functional studies of human variants in C. elegans link iron metabolism to DPD deficiency and 5-FU sensitivity.

Genetics2026 Jan 07

Dihydropyrimidine dehydrogenase (DPD), encoded by DPYD, is a key enzyme in pyrimidine catabolism, and its deficiency leads to severe toxicity in patients treated with 5-fluorouracil (5-FU). While pathogenic DPYD variants account for many cases of DPD deficiency, they do not fully explain all instances of 5-FU sensitivity, suggesting additional genetic factors are involved. Recent studies have implicated variants in CIAO1, a gene encoding a subunit of the cytosolic iron-sulfur (Fe-S) cluster assembly targeting complex, in reducing DPD stability and function. In this study, we established a C. elegans model to assess DPD deficiency and 5-FU sensitivity. Using a dpyd-1 knockout and CRISPR-generated ciao-1 variants that mirror patient-derived variants (p.Trp184Cys, p.His193Tyr, and p.Arg65Trp), we provide the first in vivo evidence that pathogenic variants in CIA complex components can lead to DPD deficiency and, consequently, heightened 5-FU toxicity. Our findings highlight the critical role of CIAO1 in DPD function and 5-FU tolerance, expanding the genetic landscape of DPD deficiency and offering a robust platform for functional evaluation of pathogenic variants.

#3

Clinical Implications of a Large-Scale Voluntary Preemptive DPYD Testing Program for Patients Planned for a Systemic Fluoropyrimidine: Preliminary Results.

JCO oncology practice2026 Mar

To assess the impact and outcomes of a novel program for routine preemptive DPYD testing in fluoropyrimidine (FP)-naïve patients. This single-center, retrospective cohort study included adult patients who either received a systemic FP or had a DPYD test result between July 1, 2022, and June 30, 2023. Patients were categorized into preemptive or standard cohorts on the basis of the timing of their DPYD test relative to their initial FP dose. Primary outcomes measured were 90-day all-cause mortality, and FP-related hospitalizations and emergency department (ED) visits after the first FP dose. Secondary outcomes included the incidence of empiric dose reductions, FP avoidance, and dose escalation tolerability among patients with dihydropyrimidine dehydrogenase (DPD) deficiency. Among 1,281 patients, 90-day all-cause mortality was 5.78% in the preemptive cohort versus 8.23% in the standard cohort (adjusted hazard ratio [HR], 0.69 [95% CI, 0.43 to 1.10]; P = .12), with a notable overrepresentation of patients treated with curative intent in the preemptive group (53.0% v 39.4%, P < .0001). Deaths attributed to DPD deficiency were one (0.18%) in the preemptive cohort and four (0.72%) in the standard cohort (not statistically significant with limited power). Hospitalizations and ED visits related to FP toxicity were paradoxically higher in the preemptive cohort (13.99% v 8.69%, adjusted HR, 1.67 [95% CI, 1.15 to 2.43]; P = .007). Among patients with DPD deficiency in the preemptive cohort, 84.6% received an empiric FP dose reduction, and dose escalation was attempted in 52.2% of these cases. Preemptive DPYD testing did not significantly reduce treatment-related mortality, although a numerical decrease suggests potential benefits that may be substantiated with greater statistical power. Nearly half of the patients managed with a dose reduction did not undergo dose escalation.

#4

A Lack of Complete Linkage Disequilibrium Between c.1236G>A and c.1129-5923C>G HapB3 Variants of DPYD: A Call to Revise European Pharmacogenetic Guidelines.

International journal of molecular sciences2025 Aug 22

Fluoropyrimidine derivatives can cause severe toxicity in patients with DPD deficiency. Regulatory agencies, such as the European Medicines Agency (EMA), recommend pre-emptive genotyping of the HapB3 haplotype, along with other variants. Historically, the two main HapB3 variants, the benign c.1236G>A and the pathogenic c.1129-5923C>G, have been assumed to be in complete linkage disequilibrium. Recent findings contradict this assumption, questioning the reliability of the HapB3 analysis through c.1236G>A, which could directly impact patient safety. The aim of this study is to assess the linkage disequilibrium between the c.1236G>A and c.1129-5923C>G variants, with the ultimate goal of revising genotyping guidelines. A total of 46 patients already heterozygous for the c.1236G>A variant have been carefully reviewed for the c.1129-5923C>G variant. From the 46 patients analyzed, 45 maintain complete linkage disequilibrium between both variants. However, there is one patient where this linkage disequilibrium is not complete, being heterozygous for c.1236G>A and homozygous for c.1129-5923C>G. These findings challenge the validity of c.1236G>A as a surrogate marker for pathogenic variant c.1129-5923C>G. This article highlights the need for a review of the recommendations of the EMA and suggests laboratories to analyze both variants, or at least the pathogenic one, to ensure accurate therapeutic decisions.

#5

Suspected capecitabine-induced fatal toxicity in the context of a new DPYD variant.

BMJ case reports2025 Aug 31

We present the case of a male in his early 70s who died after receiving adjuvant chemotherapy, probably due to an undiagnosed dihydropyrimidine dehydrogenase (DPYD) deficiency. Despite normal results from standard DPYD genotyping prior to treatment, he developed severe gastrointestinal toxicity that progressed to bowel ischaemia and ultimately death. This case underscores the potential limitations of current genotyping approaches, which may not detect rare or functionally significant DPYD variants. It also highlights the need for a cautious and comprehensive approach to fluoropyrimidine therapy, especially in patients who develop unexpected toxicity, while recognising that other contributing factors may be involved.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC136 artigos no totalmostrando 180

2025

Results of a phase II trial of short-course radiation and TASOX [trifluridine/tipiracil (TAS-102) plus oxaliplatin] chemotherapy in operable rectal cancer.

ESMO gastrointestinal oncology
2026

5-Fluorouracil-induced acute leukoencephalopathy in the absence of dihydropyrimidine dehydrogenase deficiency: A case report.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2025

Dihydropyrimidine dehydrogenase testing: capturing what standard genotyping misses with next-generation sequencing.

Pharmacogenomics
2025

Clinical Implications of Dihydropyrimidine Dehydrogenase Deficiency in GI and Hepatopancreaticobiliary Cancers Treated With Fluoropyrimidines: A Prospective Observational Study.

JCO global oncology
2025

Prevalence of uncommon side effects of 5-fluorouracil and capecitabine in Saudi patients with cancer: A cross-sectional observational study.

Medicine
2025

Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with DPYD c.2846A>T heterozygous mutation: A case report.

Oncology letters
2026

Functional studies of human variants in C. elegans link iron metabolism to DPD deficiency and 5-FU sensitivity.

Genetics
2025

A Lack of Complete Linkage Disequilibrium Between c.1236G>A and c.1129-5923C>G HapB3 Variants of DPYD: A Call to Revise European Pharmacogenetic Guidelines.

International journal of molecular sciences
2025

Phenotyping and genotyping for the dihydropyrimidine dehydrogenase test in Italy: a precise diagnostic strategy to detect rare variants and improve drug administration.

Clinical biochemistry
2025

Clinical implementation and outcome evaluation of dihydropyrimidine dehydrogenase (DPYD) pharmacogenomic testing for fluoropyrimidine dosing in a Canadian Provincial Healthcare center.

Clinical biochemistry
2025

Suspected capecitabine-induced fatal toxicity in the context of a new DPYD variant.

BMJ case reports
2025

A thymine-challenge test to prospectively evaluate dihydropyrimidine dehydrogenase activity for risk of severe 5-fluorouracil-induced gastrointestinal toxicity.

Cancer chemotherapy and pharmacology
2025

Reducing Fluorouracil Doses in Patients With Partial Dihydropyrimidine Dehydrogenase Deficiency Is a Treatment Safety Strategy, Not a Panacea of Precision Dosing.

JCO precision oncology
2025

DPD Ultra-Rapid Metabolizer Status and Efficacy of 5-Fluorouracil Treatment: A Real-World Study.

Fundamental &amp; clinical pharmacology
2025

Oncology Specialists' Perceptions and Insights Into Dihydropyrimidine Dehydrogenase Testing in Palestine.

Cancer reports (Hoboken, N.J.)
2026

Clinical Implications of a Large-Scale Voluntary Preemptive DPYD Testing Program for Patients Planned for a Systemic Fluoropyrimidine: Preliminary Results.

JCO oncology practice
2025

Application of dihydropyrimidine dehydrogenase deficiency testing for the prevention of fluoropyrimidine toxicity: a real-world experience in a Southern Italy cancer center.

Journal of chemotherapy (Florence, Italy)
2025

Securing Fluoropyrimidine-based chemotherapy: comparison of three methods of screening for dihydropyrimidine dehydrogenase deficiency.

European review for medical and pharmacological sciences
2025

A Guide for Implementing DPYD Genotyping for Systemic Fluoropyrimidines into Clinical Practice.

Clinical pharmacology and therapeutics
2025

Dihydropyrimidine Dehydrogenase Deficiency (DPYD) Genotyping-Guided Fluoropyrimidine-Based Adjuvant Chemotherapy for Breast Cancer. A Cost-Effectiveness Analysis.

Clinical drug investigation
2025

Dihydropyrimidine enzyme activity and its effect on chemotherapy toxicity: importance of genetic testing.

Cancer chemotherapy and pharmacology
2025

DPYD genotype should be extended to rare variants: report on two cases of phenotype / genotype discrepancy.

Cancer chemotherapy and pharmacology
2024

Plasma clearance of 5-fluorouracil is more influenced by variations in glomerular filtration rate than by uracil concentration.

Cancer chemotherapy and pharmacology
2025

Give Patients the Choice to Test for DPD Deficiency Before Fluoropyrimidine Chemotherapy.

JCO oncology practice
2024

Juvenile Parkinsonism Associated With Dihydropyrimidinase Deficiency.

Pediatrics
2025

Review of the fluoropyrimidine antidote uridine triacetate.

British journal of clinical pharmacology
2024

FDA Approval Summary: Capecitabine Labeling Update under Project Renewal.

Clinical cancer research : an official journal of the American Association for Cancer Research
2024

Pharmacogenetics of DPYD and treatment-related mortality on fluoropyrimidine chemotherapy for cancer patients: a meta-analysis and trial sequential analysis.

BMC cancer
2025

Management of patients with reduced dihydropyrimidine dehydrogenase activity receiving combined 5-fluoruracil-/capecitabine-based chemoradiotherapy.

Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]
2024

Partial protein binding of uracil and thymine affects accurate dihydropyrimidine dehydrogenase (DPD) phenotyping.

Journal of pharmaceutical and biomedical analysis
2024

Is uracil enough for effective pre-emptive DPD testing?

Clinical chemistry and laboratory medicine
2024

Strategies for DPYD testing prior to fluoropyrimidine chemotherapy in the US.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer
2024

Rapid determination of uracil in biological fluids at mercury thin film electrode for early detection of potential 5-fluorouracil toxicity due to dihydropyrimidine dehydrogenase deficiency.

Biosensors &amp; bioelectronics
2024

Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

Can we identify patients carrying targeted deleterious DPYD variants with plasma uracil and dihydrouracil? A GPCO-RNPGx retrospective analysis.

Clinical chemistry and laboratory medicine
2024

A fatal case of 5-FU toxicity despite dose adjustment in a patient with a partial DPD deficiency receiving the FLOT regimen.

European journal of cancer (Oxford, England : 1990)
2024

Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.

JCO precision oncology
2024

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

BMC medical genomics
2024

Complete DPYD genotyping combined with dihydropyrimidine dehydrogenase phenotyping to prevent fluoropyrimidine toxicity: A retrospective study.

Cancer medicine
2024

Dihydropyrimidine dehydrogenase gene variants for predicting grade 4-5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis.

British journal of cancer
2024

Impact of hemolysis on uracilemia in the context of dihydropyrimidine dehydrogenase deficiency testing.

Clinical chemistry and laboratory medicine
2023

5-Fluorouracil Neurotoxicity in a Patient With Normal Dihydropyrimidine Dehydrogenase Activity.

Cureus
2023

Pharmacogenetic Variants Can Influence Optical Medication Use.

Endocrine, metabolic &amp; immune disorders drug targets
2024

Risk of Toxicity From Topical 5-Fluorouracil Treatment in Patients Carrying DPYD Variant Alleles.

Clinical pharmacology and therapeutics
2023

Patient and healthcare professional acceptability of pharmacogenetic screening for DPYD and UGT1A1: A cross sectional survey.

Clinical and translational science
2023

The Incidence of Hematological Toxicities in Colorectal Cancer Patients Treated With Fluoropyrimidine-Based Regimens at Princess Noorah Oncology Center.

Cureus
2024

DPD deficiency in an Irish oncology centre: Prevalence and clinical implications.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2023

Impact of renal impairment on dihydropyrimidine dehydrogenase (DPD) phenotyping.

ESMO open
2023

A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency.

Indian journal of pediatrics
2023

Screening for dihydropyrimidine dehydrogenase deficiency by measuring uracilemia in chronic kidney disease patients is associated with a high rate of false positives.

Clinica chimica acta; international journal of clinical chemistry
2023

Implementation of dihydropyrimidine dehydrogenase deficiency testing in Europe.

ESMO open
2023

Phenotype/Genotype Discrepancy of DPD Deficiency Screening in a Patient With Severe Capecitabine Toxicity: A Case Report.

JCO precision oncology
2023

Discrepancies between dihydropyrimidine dehydrogenase phenotyping and genotyping: What are the explanatory factors?

British journal of clinical pharmacology
2023

Precision Management of a Patient With Dihydropyrimidine Dehydrogenase Deficiency and Liver-Predominant Metastatic Rectal Cancer Using Hepatic Arterial Floxuridine.

JCO precision oncology
2023

Awareness and attitudes of oncology specialists toward dihydropyrimidine dehydrogenase testing in Saudi Arabia.

Cancer reports (Hoboken, N.J.)
2023

Implementation and clinical benefit of DPYD genotyping in a Danish cancer population.

ESMO open
2023

DPYD Exon 4 Deletion Associated with Fluoropyrimidine Toxicity and Importance of Copy Number Variation.

Current oncology (Toronto, Ont.)
2023

Renal impairment and abnormal liver function tests in pre-therapeutic phenotype-based DPD deficiency screening using uracilemia: a comprehensive population-based study in 1138 patients.

Therapeutic advances in medical oncology
2023

DPYD genotyping and predicting fluoropyrimidine toxicity: where do we stand?

Pharmacogenomics
2023

Current diagnostic and clinical issues of screening for dihydropyrimidine dehydrogenase deficiency.

European journal of cancer (Oxford, England : 1990)
2022

Predicting Dihydropyrimidine Dehydrogenase Deficiency and Related 5-Fluorouracil Toxicity: Opportunities and Challenges of DPYD Exon Sequencing and the Role of Phenotyping Assays.

International journal of molecular sciences
2023

Plasma Uracil as a DPD Phenotyping Test: Pre-Analytical Handling Matters!

Clinical pharmacology and therapeutics
2022

Impact of Guidelines Regarding Dihydropyrimidine Dehydrogenase (DPD) Deficiency Screening Using Uracil-Based Phenotyping on the Reduction of Severe Side Effect of 5-Fluorouracil-Based Chemotherapy: A Propension Score Analysis.

Pharmaceutics
2022

Quantitation of Pyrimidine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry.

Methods in molecular biology (Clifton, N.J.)
2023

Quantitative impact of pre-analytical process on plasma uracil when testing for dihydropyrimidine dehydrogenase deficiency.

British journal of clinical pharmacology
2022

Introducing a simple and cost-effective RT-PCR protocol for detection of DPYD*2A polymorphism: the first study in Kurdish population.

Cancer chemotherapy and pharmacology
2022

Renal impairment and DPD testing: Watch out for false-positive results!

British journal of clinical pharmacology
2022

Testing for Dihydropyrimidine Dehydrogenase Deficiency to Individualize 5-Fluorouracil Therapy.

Cancers
2024

Determination of plasma uracil as a screening for dihydropyrimidine dehydrogenase deficiency: clinical application in oncological treatments.

European journal of hospital pharmacy : science and practice
2022

Evaluation of the Tasso-SST® capillary blood microsampling device for the measurement of endogenous uracil levels.

Clinical biochemistry
2022

Cost-effectiveness of DPYD Genotyping Prior to Fluoropyrimidine-based Adjuvant Chemotherapy for Colon Cancer.

Clinical colorectal cancer
2022

Dihydropyrimidine Dehydrogenase Deficiency and Implementation of Upfront DPYD Genotyping.

Clinical pharmacology and therapeutics
2022

Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.

Scientific reports
2022

Clinical considerations for DPD deficiency testing in advanced cancer patients: tumor lysis syndrome should be considered as a major interference.

Annals of oncology : official journal of the European Society for Medical Oncology
2022

5-Fluorouracil Neurotoxicity in the Absence of Dihydropyrimidine Dehydrogenase Deficiency Case Report.

The Neurohospitalist
2022

Dihydropyrimidine Dehydrogenase Phenotyping Using Pretreatment Uracil: A Note of Caution Based on a Large Prospective Clinical Study.

Clinical pharmacology and therapeutics
2022

Survey of US Medical Oncologists' Practices and Beliefs Regarding DPYD Testing Before Fluoropyrimidine Chemotherapy.

JCO oncology practice
2022

Severe Gastrointestinal Disorder Due to Capecitabine Associated with Dihydropyrimidine Dehydrogenase Deficiency: A Case Report and Literature Review.

Internal medicine (Tokyo, Japan)
2021

[A Case of Colon Cancer with Suspected DPD Deficiency Causing Severe Adverse Effects following Adjuvant Chemotherapy with Capecitabine].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2022

Treating patients with dihydropyrimidine dehydrogenase (DPD) deficiency with fluoropyrimidine chemotherapy since the onset of routine prospective testing-The experience of a large oncology center in the United Kingdom.

Seminars in oncology
2022

Endogenous metabolic markers for predicting the activity of dihydropyrimidine dehydrogenase.

Clinical and translational science
2021

Testing for dihydropyrimidine dehydrogenase deficiency in New Zealand to improve the safe use of 5-fluorouracil and capecitabine in cancer patients.

The New Zealand medical journal
2021

Standard-Dose Trifluridine/Tipiracil as Safe Treatment Alternative in Metastatic Colorectal Cancer Patients With DPD Deficiency.

Clinical colorectal cancer
2021

Severe 5-Fluorouracil-Associated Gastrointestinal Toxicity Unexplained by Dihydropyrimidine Dehydrogenase Deficiency and Renal Impairment: Should We Be Investigating Other Elimination Pathways to Assess the Risk of 5-Fluorouracil Toxicity?

European journal of drug metabolism and pharmacokinetics
2021

Pretherapeutic screening for Dihydropyrimidine deshydrogenase deficiency in measuring uracilemia in dialysis patients leads to a high rate of falsely positive results.

Cancer chemotherapy and pharmacology
2021

Pathogenic DPYD Variants and Treatment-Related Mortality in Patients Receiving Fluoropyrimidine Chemotherapy: A Systematic Review and Meta-Analysis.

The oncologist
2021

DPYD Exome, mRNA Expression and Uracil Levels in Early Severe Toxicity to Fluoropyrimidines: An Extreme Phenotype Approach.

Journal of personalized medicine
2021

A Facile Method for the Quantification of Urinary Uracil Concentration by a Uracil-Specific Fluorescence Derivatization Reaction.

Chemical &amp; pharmaceutical bulletin
2021

A case of necrotic enteritis during neoadjuvant chemotherapy with gemcitabine and S-1 for resectable pancreatic ductal adenocarcinoma.

Clinical journal of gastroenterology
2021

How I treat stage II colon cancer patients.

ESMO open
2021

Issues and limitations of available biomarkers for fluoropyrimidine-based chemotherapy toxicity, a narrative review of the literature.

ESMO open
2021

Leukoencephalopathy with transient splenial lesions related to 5-fluorouracil or capecitabine.

European journal of neurology
2021

Detecting DPD deficiency: when perfect is the enemy of good.

Cancer chemotherapy and pharmacology
2021

Artificial increase of uracilemia during fluoropyrimidine treatment can lead to DPD deficiency misinterpretation.

Annals of oncology : official journal of the European Society for Medical Oncology
2021

Impact of pretreatment dihydropyrimidine dehydrogenase genotype-guided fluoropyrimidine dosing on chemotherapy associated adverse events.

Clinical and translational science
2021

Autism: Screening of inborn errors of metabolism and unexpected results.

Autism research : official journal of the International Society for Autism Research
2021

Severe toxicity of capecitabine in a patient with DPD deficiency after a safe FEC-100 experience: why we should test DPD deficiency in all patients before high-dose fluoropyrimidines.

Cancer chemotherapy and pharmacology
2021

[Phenotype- or genotype test for dihydropyrimidin dehydrogenase deficiency before treatment with a fluoropyrimidine].

Ugeskrift for laeger
2021

Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population.

Cancer chemotherapy and pharmacology
2020

Dihydropyrimidine Dehydrogenase Deficiency: To Screen or Not to Screen?

Journal of the advanced practitioner in oncology
2022

Joint Belgian recommendation on screening for DPD-deficiency in patients treated with 5-FU, capecitabine (and tegafur).

Acta clinica Belgica
2021

Dihydropyrimidine dehydrogenase deficiency in patients with severe toxicity after 5-fluorouracil: a retrospective single-center study.

Annals of gastroenterology
2020

A Japanese Patient with Gastric Cancer and Dihydropyrimidine Dehydrogenase Deficiency Presenting with DPYD Variants.

Acta medica Okayama
2021

Real-world Safety and Efficacy of Raltitrexed in Patients With Metastatic Colorectal Cancer.

Clinical colorectal cancer
2021

When helping the minority of patients may hurt the majority: The case for DPD phenotyping and 5-fluorouracil therapeutic drug monitoring.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
2020

Dual deficiency of DPD and UGT1A1 in a case of colon cancer.

Pharmacogenomics
2021

Individualized Dosing of Fluoropyrimidine-Based Chemotherapy to Prevent Severe Fluoropyrimidine-Related Toxicity: What Are the Options?

Clinical pharmacology and therapeutics
2020

Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.

British journal of cancer
2020

5-Fluorouracil Rechallenge After Cardiotoxicity.

The American journal of case reports
2020

Hyperammonemic encephalopathy during XELOX regimen. Is it capecitabine or oxaliplatin responsible?

Anti-cancer drugs
2021

Exposure-response analysis of Raltitrexed assessing liver toxicity.

British journal of clinical pharmacology
2020

A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency.

British journal of cancer
2020

New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine.

Cancer chemotherapy and pharmacology
2020

Posterior reversible encephalopathy syndrome: A rare neurotoxicity after capecitabine.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2020

Automatic quantification of uracil and dihydrouracil in plasma.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
2020

5-Fluorouracil-induced hyperammonaemic encephalopathy: A French national survey.

European journal of cancer (Oxford, England : 1990)
2020

A Simple and Rapid UPLC-UV Method for Detecting DPD Deficiency in Patients With Cancer.

Clinical and translational science
2020

An Application of Machine Learning in Pharmacovigilance: Estimating Likely Patient Genotype From Phenotypical Manifestations of Fluoropyrimidine Toxicity.

Clinical pharmacology and therapeutics
2020

Delaying Centrifugation and Freezing by Adding a Dihydropyrimidine Dehydrogenase Inhibitor Such as Gimeracil to Blood Sample Is Not a Valid Option to Simplify the Preanalytic Step for the Screening of Dihydropyrimidine Dehydrogenase Deficiency Using Uracilemia.

Therapeutic drug monitoring
2019

Prevalence of the DPYD variant (Y186C) in Brazilian individuals of African ancestry.

Cancer chemotherapy and pharmacology
2019

Lethal toxicities after capecitabine intake in a previously 5-FU-treated patient: why dose matters with dihydropryimidine dehydrogenase deficiency.

Pharmacogenomics
2019

Safety Report of TAS-102 in a Patient With Reduced DPD Activity.

Clinical colorectal cancer
2020

Fluoropyrimidine-induced toxicity and DPD deficiency.. A case report of early onset, lethal capecitabine-induced toxicity and mini review of the literature. Uridine triacetate: Efficacy and safety as an antidote. Is it accessible outside USA?

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2019

[Dihydropyrimidine dehydrogenase deficiency screening for management of patients receiving a fluoropyrimidine: Results of two national practice surveys addressed to clinicians and biologists].

Bulletin du cancer
2019

The Prevalence of DPYD*9A(c.85T>C) Genotype and the Genotype-Phenotype Correlation in Patients with Gastrointestinal Malignancies Treated With Fluoropyrimidines: Updated Analysis.

Clinical colorectal cancer
2018

Severe adverse events due to dihydropyrimidine dehydrogenase deficiency in a Japanese patient with colon cancer taking capecitabine: a case report.

International cancer conference journal
2019

Fluoropyrimidines and DPD testing: is there truly an inexorable link?

European journal of cancer (Oxford, England : 1990)
2019

Three different polymorphisms of the DPYD gene associated with severe toxicity following administration of 5-FU: a case report.

Journal of medical case reports
2019

Cytomegalovirus enterocolitis in a patient with dihydropyrimidine dehydrogenase deficiency after capecitabine treatment: A case report.

International journal of surgery case reports
2018

Dihydropyrimidine dehydrogenase deficiency as a cause of fatal 5-Fluorouracil toxicity.

Autopsy &amp; case reports
2019

5-Fluorouracil rechallenge after 5-fluorouracil-induced hyperammonemic encephalopathy.

Anti-cancer drugs
2019

Effectiveness and safety of reduced-dose fluoropyrimidine therapy in patients carrying the DPYD*2A variant: A matched pair analysis.

International journal of cancer
2018

[A Case of Colon Cancer with DPD Deficiency That Showed Severe Myelosuppression by CapeOX Adjuvant Chemotherapy after Colon Resection].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2018

Standard fluoropyrimidine dosages in chemoradiation therapy result in an increased risk of severe toxicity in DPYD variant allele carriers.

European journal of cancer (Oxford, England : 1990)
2019

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

JIMD reports
2018

Cost Implications of Reactive Versus Prospective Testing for Dihydropyrimidine Dehydrogenase Deficiency in Patients With Colorectal Cancer: A Single-Institution Experience.

Dose-response : a publication of International Hormesis Society
2018

[5-fluorouracil therapeutic drug monitoring: Update and recommendations of the STP-PT group of the SFPT and the GPCO-Unicancer].

Bulletin du cancer
2018

Predicting fluoropyrimidine-related toxicity: turning wish to will, the PAMM-EORTC position.

Annals of oncology : official journal of the European Society for Medical Oncology
2018

Prompt treatment with uridine triacetate improves survival and reduces toxicity due to fluorouracil and capecitabine overdose or dihydropyrimidine dehydrogenase deficiency.

Toxicology and applied pharmacology
2018

Topical application of 5-fluorouracil 5 percent cream associated with severe neutropenia: discussion of a case and review of systemic reactions after topical treatment with 5-fluorouracil.

Dermatology online journal
2018

Capecitabine Toxicity and Dihydropyrimidine Dehydrogenase Deficiency.

American journal of therapeutics
2018

Preliminary Evidence for Enhanced Thymine Absorption: A Putative New Phenotype Associated With Fluoropyrimidine Toxicity in Cancer Patients.

Therapeutic drug monitoring
2018

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Human mutation
2018

Tolerability, Safety, and Outcomes of Neoadjuvant Chemoradiotherapy With Capecitabine for Patients Aged ≥ 70 Years With Locally Advanced Rectal Cancer.

Clinical colorectal cancer
2018

[Requirement of DPD deficiency screening before prescription of fluoropyrimidines].

Bulletin du cancer
2018

DPD functional tests in plasma, fresh saliva and dried saliva samples as predictors of 5-fluorouracil exposure and occurrence of drug-related severe toxicity.

Clinical biochemistry
2018

Fluoropyrimidine-induced cardiotoxicity.

Critical reviews in oncology/hematology
2018

[Dihydropyrimidine dehydrogenase deficiency causes severe adverse effects of capecitabine].

Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology
2018

[Dihydropyrimidine déhydrogenase (DPD) deficiency screening and securing of fluoropyrimidine-based chemotherapies: Update and recommendations of the French GPCO-Unicancer and RNPGx networks].

Bulletin du cancer
2018

Life-Threatening Reaction with Topical 5-Fluorouracil.

Drug safety - case reports
2017

PRIMUM NON NOCERE: now and again an echo of DPD with capecitabine.

Cancer chemotherapy and pharmacology
2019

Successful use of uridine triacetate (Vistogard) three weeks after capecitabine in a patient with homozygous dihydropyrimidine dehydrogenase mutation: A case report and review of the literature.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2018

Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.

International journal of cancer
2017

Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: The multiparametric approach is not convincing.

Seminars in oncology
2017

A simple and fast LC-MS/MS method with a very high sensitivity for the measurement of raltitrexed in human plasma.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
2017

Pretreatment serum uracil concentration as a predictor of severe and fatal fluoropyrimidine-associated toxicity.

British journal of cancer
2017

Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach.

Seminars in oncology
2017

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

JIMD reports
2017

Capecitabine-Induced Severe Toxicity Secondary to DPD Deficiency and Successful Treatment with Low Dose 5-Fluorouracil.

Journal of gastrointestinal cancer
2017

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Biochimica et biophysica acta. Molecular basis of disease
2017

Recommendation on testing for dihydropyrimidine dehydrogenase deficiency in the ESMO consensus guidelines for the management of patients with metastatic colorectal cancer.

Annals of oncology : official journal of the European Society for Medical Oncology
2017

Emergency use of uridine triacetate for the prevention and treatment of life-threatening 5-fluorouracil and capecitabine toxicity.

Cancer
2016

Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines.

Cancer chemotherapy and pharmacology
2016

Current insights into the impact of dihydropyrimidine dehydrogenase deficiency in patients receiving treatment with 5-fluorouracil.

Clinical advances in hematology &amp; oncology : H&amp;O
2016

Benefit of uridine triacetate (Vistogard) in rescuing severe 5-fluorouracil toxicity in patients with dihydropyrimidine dehydrogenase (DPYD) deficiency.

Cancer chemotherapy and pharmacology
2016

Development and validation of a rapid and sensitive UPLC-MS/MS method for determination of uracil and dihydrouracil in human plasma.

Journal of pharmaceutical and biomedical analysis
2016

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Biochimica et biophysica acta
2016

Evaluation of an oral uracil loading test to identify DPD-deficient patients using a limited sampling strategy.

British journal of clinical pharmacology
2016

Beating the odds: efficacy and toxicity of dihydropyrimidine dehydrogenase-driven adaptive dosing of 5-FU in patients with digestive cancer.

British journal of clinical pharmacology
2014

Toxicity Associated with Capecitabine in Patients Suffering from Dihydropyrimidine Dehydrogenase Deficiency.

Chemotherapy
2015

Personalizing chemotherapy dosing using pharmacological methods.

Cancer chemotherapy and pharmacology
2015

[PHARMACOGENOMICS AND PERSONALIZED MEDICINE: TOWARDS A SYSTEMATIC GENOMIC SCREENING?].

Revue medicale de Liege
2015

Translating DPYD genotype into DPD phenotype: using the DPYD gene activity score.

Pharmacogenomics
2016

Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.

Clinical pharmacology and therapeutics
2015

Influence of metastatic disease on the usefulness of uracil pharmacokinetics as a screening tool for DPD activity in colorectal cancer patients.

Cancer chemotherapy and pharmacology
2016

Lethal 5-fluorouracil toxicity in a colorectal patient with severe dihydropyrimidine dehydrogenase (DPD) deficiency.

International journal of colorectal disease
2015

DPD and UGT1A1 deficiency in colorectal cancer patients receiving triplet chemotherapy with fluoropyrimidines, oxaliplatin and irinotecan.

British journal of clinical pharmacology
2015

Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma.

Translational neuroscience
2015

[Suspected dihydropyrimidine dehydrogenase deficiency in a patient receiving capecitabine as adjuvant chemotherapy after colon resection].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2014

Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings.

Molecular syndromology

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. 5-Fluorouracil-induced acute leukoencephalopathy in the absence of dihydropyrimidine dehydrogenase deficiency: A case report.
    Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners· 2026· PMID 41610218mais citado
  2. Functional studies of human variants in C. elegans link iron metabolism to DPD deficiency and 5-FU sensitivity.
    Genetics· 2026· PMID 41131702mais citado
  3. Clinical Implications of a Large-Scale Voluntary Preemptive DPYD Testing Program for Patients Planned for a Systemic Fluoropyrimidine: Preliminary Results.
    JCO oncology practice· 2026· PMID 40505058mais citado
  4. A Lack of Complete Linkage Disequilibrium Between c.1236G&gt;A and c.1129-5923C&gt;G HapB3 Variants of DPYD: A Call to Revise European Pharmacogenetic Guidelines.
    International journal of molecular sciences· 2025· PMID 40943060mais citado
  5. Suspected capecitabine-induced fatal toxicity in the context of a new DPYD variant.
    BMJ case reports· 2025· PMID 40887140mais citado
  6. Toxicity of Capecitabine and Oxaliplatin as Adjuvant Therapy for Stage III Colorectal Cancer Patients With Diverting Stoma.
    JCO Oncol Pract· 2026· PMID 41886725recente
  7. Results of a phase II trial of short-course radiation and TASOX [trifluridine/tipiracil (TAS-102) plus oxaliplatin] chemotherapy in operable rectal cancer.
    ESMO Gastrointest Oncol· 2025· PMID 41647990recente
  8. Clinical Implications of Dihydropyrimidine Dehydrogenase Deficiency in GI and Hepatopancreaticobiliary Cancers Treated With Fluoropyrimidines: A Prospective Observational Study.
    JCO Glob Oncol· 2025· PMID 41259730recente
  9. Prevalence of uncommon side effects of 5-fluorouracil and capecitabine in Saudi patients with cancer: A cross-sectional observational study.
    Medicine (Baltimore)· 2025· PMID 41189209recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1675(Orphanet)
  2. OMIM OMIM:274270(OMIM)
  3. MONDO:0010130(MONDO)
  4. GARD:19(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q5276448(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Deficiência de diidropirimidina desidrogenase
Compêndio · Raras BR

Deficiência de diidropirimidina desidrogenase

ORPHA:1675 · MONDO:0010130
Prevalência
Unknown
Herança
Autosomal recessive
CID-10
E79.8 · Outros distúrbios do metabolismo da purina e pirimidina
CID-11
Ensaios
2 ativos
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0274576
EuropePMC
Wikidata
Papers 10a
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