Dihydrouracil dehydrogenase (NADP^+^) deficiency

disorder

SNOMED 77365006CUI C1959620

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Dehydrogenase Deficiencies, Dihydropyrimidine" from the MEDLINE/PubMed database.

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

[object Object], [object Object], [object Object] et al. · Br J Cancer · 2024

PMID: 38225422Meta-AnalysisFull text (PMC)

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

[object Object], [object Object], [object Object] et al. · BMC Cancer · 2024

PMID: 39350200Meta-AnalysisFull text (PMC)

Review of the fluoropyrimidine antidote uridine triacetate.

[object Object], [object Object], [object Object] · Br J Clin Pharmacol · 2025

PMID: 39468799Review

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

[object Object], [object Object], [object Object] et al. · Clin Pharmacol Ther · 2025

PMID: 39887719ReviewFull text (PMC)

genotyping and predicting fluoropyrimidine toxicity: where do we stand?

[object Object], [object Object], [object Object] et al. · Pharmacogenomics · 2023

PMID: 36636997Review

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

[object Object], [object Object], [object Object] et al. · Eur J Cancer · 2023

PMID: 36621118Review

Dihydropyrimidine Dehydrogenase Deficiency and Implementation of Upfront DPYD Genotyping.

[object Object], [object Object], [object Object] et al. · Clin Pharmacol Ther · 2022

PMID: 35607723Review

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

[object Object], [object Object], [object Object] et al. · ESMO Open · 2021

PMID: 33895696ReviewFull text (PMC)

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

[object Object], [object Object], [object Object] et al. · Clin Pharmacol Ther · 2021

PMID: 33020924ReviewFull text (PMC)

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

[object Object], [object Object], [object Object] et al. · Ugeskr Laeger · 2021

PMID: 33570023Review

Search all PubMed articles for Dihydrouracil dehydrogenase (NADP^+^) deficiency

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Dihydropyrimidine dehydrogenase deficiency

Very frequent (80-99%)HP:0003654

Uraciluria

Very frequent (80-99%)HP:0012127

Dull intelligence

Frequent (30-79%)HP:0001249

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Epilepsy

Frequent (30-79%)HP:0001250

Hypotonia, early

Frequent (30-79%)HP:0008947

Mental and motor retardation

Frequent (30-79%)HP:0001263

Multifocal EEG abnormality

Frequent (30-79%)HP:0010841

Specific learning disability

Frequent (30-79%)HP:0001328

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormal development of the ends of long bones in arms and legs

Occasional (5-29%)HP:0002656

Abnormal eye

Occasional (5-29%)HP:0000478

Abnormal social interactions

Occasional (5-29%)HP:0012433

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Absent tendon reflexes

Occasional (5-29%)HP:0001284

Aggression

Occasional (5-29%)HP:0000718

ASD

Occasional (5-29%)HP:0000729

Autism

Occasional (5-29%)HP:0000717

Concave bridge of nose

Occasional (5-29%)HP:0005280

Cornea of eye less than 10mm in diameter

Occasional (5-29%)HP:0000482

Decreased size of cranium

Occasional (5-29%)HP:0000252

Deep palmar creases

Occasional (5-29%)HP:0006191

Degeneration of cerebrum

Occasional (5-29%)HP:0002059

Delayed eruption of teeth

Occasional (5-29%)HP:0000684

Depressed philtrum

Occasional (5-29%)HP:0002002

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Eyelid thickening

Occasional (5-29%)HP:0030939

Febrile seizure (within the age range of 3 months to 6 years)

Occasional (5-29%)HP:0002373

Feeding difficulties in infancy

Occasional (5-29%)HP:0008872

High arched palate

Occasional (5-29%)HP:0000218

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Enzymopathy(parent)

Disorder of pyrimidine metabolism(parent)

Quick Facts

SNOMED CT: 77365006
UMLS CUI: C1959620
Fully Specified Name: Dihydropyrimidine dehydrogenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.