Number of the records: 1
deficit dihydropyrimidíndehydrogenázy
Record number d054067 Date 06.06.2025 Type M - MESH Topical term deficit dihydropyrimidíndehydrogenázy UDC C16.320.565.798.183C18.452.648.798.183 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. subject heading
Number of the records: 1