title: Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells.
abstract: Human peripheral lymphocytes, granulocytes, and platelets contain the enzyme dihydropteridine reductase. A simple procedure and assay for diagnosing dihydropteridine reductase on peripheral blood is described. In twelve controls the level of enzyme activity in a lymphocyte-platelet preparation was 29.5 +/- 4.8 (SD) nmol NADH oxidised/min/mg protein. Two heterozygotes for dihydropteridine reductase deficiency had activities of 6.4 and 10.3 nmol NADH oxidised/min/mg protein, respectively.
mesh_terms: D001792:Blood Platelets / Q000201:enzymology*; D002469:Cell Separation; D002499:Centrifugation, Density Gradient; D004591:Electrophoresis, Polyacrylamide Gel; D006098:Granulocytes / Q000201:enzymology*; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D010661:Phenylketonurias / Q000097:blood / Q000175:diagnosis*
chemical_list: D009247:NADH, NADPH Oxidoreductases