Front line tests for the investigation of suspected porphyria

Citation
Ac. Deacon et Gh. Elder, Front line tests for the investigation of suspected porphyria, J CLIN PATH, 54(7), 2001, pp. 500-507
Citations number
27
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Medical Research Diagnosis & Treatment
Journal title
JOURNAL OF CLINICAL PATHOLOGY
ISSN journal
00219746 → ACNP
Volume
54
Issue
7
Year of publication
2001
Pages
500 - 507
Database
ISI
SICI code
0021-9746(200107)54:7<500:FLTFTI>2.0.ZU;2-C
Abstract
The porphyrias are uncommon disorders of haem biosynthesis and their effect ive management requires prompt and accurate diagnosis. This article describ es methods for the determination of urinary porphobilinogen, urinary and fa ecal total porphyrins, and total porphyrins in erythrocytes and plasma that are suitable for use in non-specialist laboratories. The selection and int erpretation of these methods, and the indications for further, more special ised, investigation are discussed.