| Descriptor English: | Dihydropyrimidine Dehydrogenase Deficiency | ||||
| Descriptor Spanish: |
Deficiencia de Dihidropirimidina Deshidrogenasa
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| Descriptor Portuguese: | Deficiência da Di-Hidropirimidina Desidrogenase | ||||
| Descriptor French: | Déficit en dihydropyrimidine déshydrogénase | ||||
| Entry term(s): |
DPD Deficiencies DPD Deficiency Deficiencies, DPD Deficiencies, Dihydropyrimidine Dehydrogenase Deficiency, DPD Deficiency, Dihydropyrimidine Dehydrogenase Dehydrogenase Deficiencies, Dihydropyrimidine Dehydrogenase Deficiency, Dihydropyrimidine Dihydropyrimidine Dehydrogenase Deficiencies Dihydropyrimidinuria Dihydropyrimidinurias Familial Pyrimidemia Familial Pyrimidemias Familial Pyrimidinemia Familial Pyrimidinemias Hereditary Thymine Uraciluria Hereditary Thymine-Uraciluria Hereditary Thymine-Uracilurias Pyrimidemia, Familial Pyrimidemias, Familial Pyrimidinemia, Familial Pyrimidinemias, Familial Thymine Uraciluria, Hereditary Thymine-Uraciluria, Hereditary Thymine-Uracilurias, Hereditary |
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| Tree number(s): |
C16.320.565.798.183 C18.452.648.798.183 |
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| RDF Unique Identifier: | https://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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Dihydrouracil Dehydrogenase (NADP) (1984-2007) |
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| Public MeSH Note: | 2008 |
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| History Note: | 2008 |
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| DeCS ID: | 52628 | ||||
| Unique ID: | D054067 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2008/01/01 | ||||
| Date of Entry: | 2007/07/09 | ||||
| Revision Date: | 2013/07/08 |
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Dihydropyrimidine Dehydrogenase Deficiency
- Preferred
Dihydropyrimidinuria
- Related but not broader or narrower
| Concept UI |
M0500884 |
| 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. |
| Preferred term | Dihydropyrimidine Dehydrogenase Deficiency |
| Entry term(s) |
DPD Deficiencies DPD Deficiency Deficiencies, DPD Deficiencies, Dihydropyrimidine Dehydrogenase Deficiency, DPD Deficiency, Dihydropyrimidine Dehydrogenase Dehydrogenase Deficiencies, Dihydropyrimidine Dehydrogenase Deficiency, Dihydropyrimidine Dihydropyrimidine Dehydrogenase Deficiencies Familial Pyrimidemia Familial Pyrimidemias Familial Pyrimidinemia Familial Pyrimidinemias Hereditary Thymine Uraciluria Hereditary Thymine-Uraciluria Hereditary Thymine-Uracilurias Pyrimidemia, Familial Pyrimidemias, Familial Pyrimidinemia, Familial Pyrimidinemias, Familial Thymine Uraciluria, Hereditary Thymine-Uraciluria, Hereditary Thymine-Uracilurias, Hereditary |
| Concept UI |
M0525158 |
| Preferred term | Dihydropyrimidinuria |
| Entry term(s) |
Dihydropyrimidinurias |
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