A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria.
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, delta-aminolevulinic acid is used as substrate. Mercaptoethanol and zinc ions are introduced to maintain delta-aminolevulinic acid dehydratase in optimal conditions and to guarantee the in vitro production of porphobilinogen. An incubation temperature of 45 degrees 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.
Vázquez-Prado
J
J
Department of Genetics, Laboratorios Clínicos de Puebla, México.
Sánchez-Anzaldo
F J
FJ
Ruiz-Argüelles
G J
GJ
Marín-López
E
E
Lobato-Mendizábal
E
E
D000208:Acute Disease; D000328:Adult; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005820:Genetic Testing; D006400:Hematocrit; D006579:Heterozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood*; D008297:Male; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics*; D012016:Reference Values; D013056:Spectrophotometry, Ultraviolet; D014578:Uroporphyrins / Q000032:analysis
D014578:Uroporphyrins; D011163:Hydroxymethylbilane Synthase