Dihydrothymine dehydrogenase deficiency in a family, leading to elevated levels of uracil and thymine.
D002648:Child; D002849:Chromatography, Gas; D050744:Dihydrouracil Dehydrogenase (NAD+); D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D012016:Reference Values; D013941:Thymine / Q000378:metabolism*; D014498:Uracil / Q000378:metabolism*
D014498:Uracil; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050744:Dihydrouracil Dehydrogenase (NAD+); D013941:Thymine