Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.
Correlation of the response to a load of tetrahydrobiopterin (BH4) in dihydropterin reductase (DHPR) deficient patients to the type of mutation in these patients has led to the conclusion that 4 patients without mutant DHPR molecules in their cells respond to the BH4 load, whereas 3 patients with mutant DHPR in their cells do not respond. Intravenous injection of BH4 in 1 of the cases not responding to BH4 again showed no response.
D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency; D002675:Child, Preschool; D004093:Dihydropteridine Reductase / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D009154:Mutation; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias
D001708:Biopterins; D010649:Phenylalanine; D004093:Dihydropteridine Reductase; D009247:NADH, NADPH Oxidoreductases; C003402:sapropterin