The measurement of erythrocyte uroporphyrinogen i synthase in the diagnosis of latent and acute intermittent porphyria

• Autores: Brocklehurst, D.; Wider De Xifra, E.A.; Batlle, A.
• Año de publicación: 1980
• Idioma: inglés
• Tipo de recurso: artículo
• Fuente: Int. J. Biochem. 1980;12(5-6):791-793
• Materia: blood and hemopoietic system; erythrocyte; methodology; porphyria; uroporphyrinogen synthase; Acute Disease; Adult; Aged; Ammonia-Lyases; Chronic Disease; Comparative Study; Enzyme Tests; Erythrocytes; Female; Human; Hydroxymethylbilane Synthase; Kinetics; Male; Pedigree; Porphyria
• Institución: Universidad Nacional de Buenos Aires. Facultad de Ciencias Exactas y Naturales

1. 1. This paper confirms the increase in sensitivity obtained for erythrocyte UIS measurement by pre-incubation of the red cells in a 0.2% Triton-X 100 solution containing 1 mmol/1 ZnSO4 and dithiothreitol as described by Piepkorn et al. (1978). 2. 2. To achieve optimal precision in this assay a substrate concentration of delta aminolaevulinic acid (ALA) of 1000nmol/ml is required. Interpretation of the results obtained by this method is discussed and its use in the detection of both latent and acute intermittent porphyria is demonstrated. Comparative studies were carried out by using the Batlle et al. (1978) method and a modification employing ALA as substrate. © 1980.
Fil:Wider De Xifra, E.A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina.
Fil:Batlle, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina.