title: A filter paper dry blood spot procedure for acute intermittent porphyria population screening by use of whole blood uroporphyrinogen-I-synthase assay.
abstract: A filter paper dry blood spot procedure for the determination of whole blood uroporphyrinogen-I-synthase (UIS) activity is presented. The method is based on the concept of enzyme specific activity, the enzyme activity being related to the haemoglobin concentration of the assay sample. The diagnostic capacity with regard to the acute intermittent porphyria (AIP) gene carrier state is shown to be equivalent to that of a washed red cell reference method. On grounds of easy capillary blood sampling, uncomplicated and safe mail specimen transport and simple laboratory reception routines, the method is stated to be well adapted for use in AIP preadolescent population screening.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000642:Ammonia-Lyases / Q000097:blood*; D001800:Blood Specimen Collection / Q000379:methods; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005374:Filtration; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D010209:Paper; D011164:Porphyrias / Q000175:diagnosis*; D013548:Sweden
chemical_list: D011163:Hydroxymethylbilane Synthase; D000642:Ammonia-Lyases