Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

25 entry terms
  • DPD Deficiency
  • Familial Pyrimidemia
  • Familial Pyrimidinemia
  • Hereditary Thymine-Uraciluria
  • Pyrimidinemia, Familial
  • Thymine-Uraciluria, Hereditary
  • DPD Deficiencies
  • Deficiencies, DPD
  • Deficiencies, Dihydropyrimidine Dehydrogenase
  • Deficiency, DPD
  • Deficiency, Dihydropyrimidine Dehydrogenase
  • Dehydrogenase Deficiencies, Dihydropyrimidine
  • Dehydrogenase Deficiency, Dihydropyrimidine
  • Dihydropyrimidine Dehydrogenase Deficiencies
  • Familial Pyrimidemias
  • Familial Pyrimidinemias
  • Hereditary Thymine Uraciluria
  • Hereditary Thymine-Uracilurias
  • Pyrimidemia, Familial
  • Pyrimidemias, Familial
  • Pyrimidinemias, Familial
  • Thymine Uraciluria, Hereditary
  • Thymine-Uracilurias, Hereditary
  • Dihydropyrimidinuria
  • Dihydropyrimidinurias

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2008

MeSH Record

Previous Indexing

  • Dihydrouracil Dehydrogenase (NADP) (1984-2007)

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.798w.183w
  2. C18.452w.648w.798w.183w

AMA Style

References

  1. National Library of Medicine. Dihydropyrimidine Dehydrogenase Deficiency. Medical Subject Headings (MeSH). 2026. Unique ID D054067. http://id.nlm.nih.gov/mesh/2026/D054067
  2. Dihydropyrimidine Dehydrogenase Deficiency. In: Wikipedia. https://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency
  3. Dihydropyrimidine Dehydrogenase Deficiency. In: Wikidata. https://www.wikidata.org/wiki/Q5276448