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Dihydropyrimidine Dehydrogenase Deficiency MeSH Descriptor Data 2023


MeSH Heading
Dihydropyrimidine Dehydrogenase Deficiency
Tree Number(s)
C16.320.565.798.183
C18.452.648.798.183
Unique ID
D054067
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054067
Scope Note
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.
Entry Term(s)
DPD Deficiency
Dihydropyrimidinuria
Familial Pyrimidemia
Familial Pyrimidinemia
Hereditary Thymine-Uraciluria
Pyrimidinemia, Familial
Thymine-Uraciluria, Hereditary
Previous Indexing
Dihydrouracil Dehydrogenase (NADP) (1984-2007)
Public MeSH Note
2008
History Note
2008
Date Established
2008/01/01
Date of Entry
2007/07/09
Revision Date
2013/07/08
Dihydropyrimidine Dehydrogenase Deficiency Preferred
Dihydropyrimidinuria Related
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