Dihydropyrimidine Dehydrogenase Deficiency
"Dihydropyrimidine Dehydrogenase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D054067
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MeSH Number(s) |
C16.320.565.798.183 C18.452.648.798.183
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Concept/Terms |
Dihydropyrimidine Dehydrogenase Deficiency- Dihydropyrimidine Dehydrogenase Deficiency
- Deficiencies, Dihydropyrimidine Dehydrogenase
- Deficiency, Dihydropyrimidine Dehydrogenase
- Dehydrogenase Deficiencies, Dihydropyrimidine
- Dehydrogenase Deficiency, Dihydropyrimidine
- Dihydropyrimidine Dehydrogenase Deficiencies
- Pyrimidinemia, Familial
- Familial Pyrimidinemias
- Pyrimidinemias, Familial
Thymine-Uraciluria, Hereditary- Thymine-Uraciluria, Hereditary
- Hereditary Thymine-Uraciluria
- Hereditary Thymine-Uracilurias
- Thymine Uraciluria, Hereditary
- Thymine-Uracilurias, Hereditary
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Below are MeSH descriptors whose meaning is more general than "Dihydropyrimidine Dehydrogenase Deficiency".
Below are MeSH descriptors whose meaning is more specific than "Dihydropyrimidine Dehydrogenase Deficiency".
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Below are the most recent publications written about "Dihydropyrimidine Dehydrogenase Deficiency" by people in Profiles over the past ten years.