Search on: FAMILIAL PYRIMIDINEMIA 
Descriptors Found: 1
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Descriptor English:   Dihydropyrimidine Dehydrogenase Deficiency 
Descriptor Spanish:   Deficiencia de Dihidropirimidina Deshidrogenasa 
Descriptor Portuguese:   Deficiência da Di-Hidropirimidina Desidrogenase 
Synonyms English:   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  
Tree Number:   C16.320.565.798.183
C18.452.648.798.183
Definition English:   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. 
History Note English:   2008 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   52628 
Unique Identifier:   D054067 

Occurrence in VHL: 		 

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