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

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 su...

Descripción completa

Detalles Bibliográficos
Autores: Brocklehurst, D., Wider De Xifra, E.A., Batlle, A.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:1980
País:Argentina
Institución:Universidad Nacional de Buenos Aires. Facultad de Ciencias Exactas y Naturales
Repositorio:Biblioteca Digital (UBA-FCEN)
Idioma:inglés
OAI Identifier:paperaa:paper_0020711X_v12_n5-6_p791_Brocklehurst
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_0020711X_v12_n5-6_p791_Brocklehurst
Access Level:acceso abierto
Palabra clave: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
Descripción
Sumario: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.