Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells

Lancet. 1979 Dec 15;2(8155):1260-3. doi: 10.1016/s0140-6736(79)92279-7.

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

  • Blood Platelets / enzymology*
  • Cell Separation
  • Centrifugation, Density Gradient
  • Electrophoresis, Polyacrylamide Gel
  • Granulocytes / enzymology*
  • Humans
  • Lymphocytes / enzymology*
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / diagnosis*
  • NADH, NADPH Oxidoreductases / deficiency*
  • Phenylketonurias* / blood
  • Phenylketonurias* / diagnosis*

Substances

  • NADH, NADPH Oxidoreductases