Dihydropyrimidine dehydrogenase deficiency. Neurological aspects.
A family with dihydropyrimidine dehydrogenase (DPD) deficiency is presented. In 3 persons a complete deficiency, and in 3 others a partial deficiency was detected in cultured fibroblasts. Two homozygote subjects and 1 heterozygote subject suffered from epileptic manifestations, in one of these homozygote subjects also microcephaly was found. DPD deficiency might be an etiological factor in the clinical picture of these patients. An autosomal recessive mode of inheritance of this deficiency was found.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D042943:Dihydrouracil Dehydrogenase (NADP); D004827:Epilepsy / Q000209:etiology / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D010375:Pedigree; D013941:Thymine / Q000378:metabolism; D014498:Uracil / Q000378:metabolism
D014498:Uracil; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D013941:Thymine