PMID: 59010Jun 26, 1976

Characterisation of the enzyme defect in chronic granulomatous disease

A W Segal, T J Peters


Strikingly reduced activity of an enzyme, normally located in the plasma membrane of human neutrophils, has been demonstrated in a male patient with chronic granulomatous disease (C.G.D.). The subcellular distribution of N.A.D.H.-dependent reduction of nitroblue tetrazolium (N.B.T.) was determined in neutrophils because reduction of this dye by these patients is grossly impaired. Assayed at high concentrations of N.A.D.H. (1 mmol/1), N.B.T. is reduced by enzymes in the cytosol and mitochondria in addition to the plasma membrane by both normal and C.G.D. cells--properties which previously obscured the identity and location of this enzyme. At a more physiological concentration of N.A.D.H. (25 mumol/1), reduction of the dye by the plasma membrane, the principal site of N.B.T. reduction by normal neutrophils, was absent in the patient with C.G.D. It is suggested that absence or imperfect function of this reductase enzyme is the primary lesion in this disease.


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Jul 31, 1978·Biochimica Et Biophysica Acta·H Löw, F L Crane
Jan 1, 1988·Free Radical Biology & Medicine·P Bellavite
Oct 21, 1994·Biochimica Et Biophysica Acta·A J ThrasherA W Segal
Mar 23, 1978·The New England Journal of Medicine·B M Babior
May 17, 1979·The New England Journal of Medicine·J A BadweyM L Karnovsky
Nov 1, 1977·Acta paediatrica Scandinavica·Y H Thong, V Rencis
Jan 1, 1978·Scandinavian Journal of Infectious Diseases·B ElgeforsH Peterson
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Jun 1, 1983·European Journal of Clinical Investigation·N BorregaardN H Valerius
Dec 1, 1981·Journal of Bioenergetics and Biomembranes·T RamasarmaF L Crane
Sep 30, 2000·Clinical and Experimental Immunology·D Goldblatt, A J Thrasher
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Related Concepts

Plasma Membrane
Glucose, (beta-D)-Isomer
NAD(P)H Nitroblue Tetrazolium Reductase
NADH, NADPH Oxidoreductases
Neutrophil Band Cells
Oxygen Consumption
Phagocyte Bactericidal Dysfunction
Tetrazolium Salts

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