A MODIFIED SPECTROPHOTOMETRIC ASSAY FOR PORPHOBILINOGEN DEAMINASE - ITS APPLICATION IN THE DETECTION OF BOTH CARRIERS AND PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA

Authors
VAZQUEZPRADO J SANCHEZANZALDO FJ RUIZARGUELLES GJ MARINLOPEZ E LOBATOMENDIZABAL E
Citation
J. Vazquezprado et al., A MODIFIED SPECTROPHOTOMETRIC ASSAY FOR PORPHOBILINOGEN DEAMINASE - ITS APPLICATION IN THE DETECTION OF BOTH CARRIERS AND PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA, Journal of inherited metabolic disease, 18(1), 1995, pp. 66-71
Citations number
14
Categorie Soggetti
Endocrynology & Metabolism
Journal title
Journal of inherited metabolic disease → ACNP
ISSN journal
01418955
Volume
18
Issue
1
Year of publication
1995
Pages
66 - 71
Database
ISI
SICI code
0141-8955(1995)18:1<66:AMSAFP>2.0.ZU;2-7
Abstract
A spectrophotometric method for porphobilinogen deaminase assay in ery throcytes is described. This test is determinant for the definite diag nosis of acute intermittent porphyria. In the method described, delta- aminolevulinic acid is used as substrate. Mercaptoethanol and zinc ion s are introduced to maintain delta-aminolevulinic acid dehydratase in optimal conditions and to guarantee the in vitro production of porphob ilinogen. An incubation temperature of 45 degrees C leads to the produ ction of uroporphyrins, which are measured spectrophotometrically at 4 05 nm, giving reproducible results. The assay can be performed easily in any clinical laboratory and is valuable for detecting both patients and carriers of acute intermittent porphyria.