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A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria
Author(s) -
VázquezPrado J.,
SánchezAnzaldo F. J.,
RuizArgüelles G. J.,
MarínLópez E.,
LobatoMendizábal E.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711375
Subject(s) - porphobilinogen deaminase , acute intermittent porphyria , porphyria , porphobilinogen , medicine , porphobilinogen synthase , human genetics , gastroenterology , chemistry , biochemistry , enzyme , dehydratase , gene
Summary A spectrophotometric method for porphobilinogen deaminase assay in erythrocytes is described. This test is determinant for the definite diagnosis of acute intermittent porphyria. In the method described, δ‐aminolevulinic acid is used as substrate. Mercaptoethanol and zinc ions are introduced to maintain δ‐aminolevulinic acid dehydratase in optimal conditions and to guarantee the in vitro production of porphobilinogen. An incubation temperature of 45°C leads to the production of uroporphyrins, which are measured spectrophotometrically at 405 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.