Literature DB >> 8481987

Clinical utility of fluorometric scanning of plasma porphyrins for the diagnosis and typing of porphyrias.

R Enriquez de Salamanca1, P Sepulveda, M J Moran, J L Santos, A Fontanellas, A Hernández.   

Abstract

The fluorometric emission scanning (using excitation at 405 nm) of plasma samples, simply diluted five-fold in phosphate-buffered saline, allows the differentiation of three conditions according to their porphyrin content. The emission maximum at 626-628 nm is a specific finding in variegate porphyria, while in erythropoietic protoporphyria a characteristic peak is found at 636 nm. A fluorescence emission maximum at 618-622 nm corresponds to a third group that includes normal subjects, non-porphyria patients and patients suffering from acute intermittent porphyria, hereditary coproporphyria, congenital erythropoietic porphyria (Günther disease) and porphyria cutanea tarda. Therefore, this simple, quick and cheap screening test allows one to establish whether a patient with a photocutaneous syndrome has porphyria and whether this porphyria belongs to the types: variegate, protoporphyria or other cutaneous porphyrias.

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Year:  1993        PMID: 8481987     DOI: 10.1111/j.1365-2230.1993.tb00992.x

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN: 0307-6938            Impact factor:   3.470


  3 in total

1.  Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.

Authors:  Manuel Méndez; Barbara X Granata; María J Morán Jiménez; Victoria E Parera; Alcira Batlle; Rafael Enríquez de Salamanca; María V Rossetti
Journal:  JIMD Rep       Date:  2011-12-06

Review 2.  Acute hepatic porphyrias: Current diagnosis & management.

Authors:  Karl E Anderson
Journal:  Mol Genet Metab       Date:  2019-07-05       Impact factor: 4.797

Review 3.  Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.

Authors:  Manisha Balwani
Journal:  Mol Genet Metab       Date:  2019-01-24       Impact factor: 4.797

  3 in total

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