DIHYDROPTERIDINE REDUCTASE DEFICIENCY DIAGNOSIS BY ASSAYS ON PERIPHERAL BLOOD-CELLS

DIHYDROPTERIDINE REDUCTASE DEFICIENCY DIAGNOSIS BY ASSAYS ON PERIPHERAL BLOOD-CELLS

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 2...

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Veröffentlicht in:The Lancet (British edition) 1979-12, Vol.314 (8155), p.1260-1263
Hauptverfasser: Firgaira, FrankA, Cotton, RichardG.H., Danks, DavidM
Format: Artikel
Sprache:eng
Schlagworte:
Blood
Dihydropteridine reductase
Enzymatic activity
Enzyme activity
Enzymes
Heterozygotes
Leukocytes (granulocytic)
Lymphocytes
Medical diagnosis
NADH
Nicotinamide adenine dinucleotide
Peripheral blood
Platelets
Proteins
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Zusammenfassung: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.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(79)92279-7