Laboratory Diagnosis of Porphyria
Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pa...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-07-01
|
| Series: | Diagnostics |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-4418/11/8/1343 |
| _version_ | 1797524202672095232 |
|---|---|
| author | Elena Di Pierro Michele De Canio Rosa Mercadante Maria Savino Francesca Granata Dario Tavazzi Anna Maria Nicolli Andrea Trevisan Stefano Marchini Silvia Fustinoni |
| author_facet | Elena Di Pierro Michele De Canio Rosa Mercadante Maria Savino Francesca Granata Dario Tavazzi Anna Maria Nicolli Andrea Trevisan Stefano Marchini Silvia Fustinoni |
| author_sort | Elena Di Pierro |
| collection | DOAJ |
| description | Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. Porphyrias continue to be underdiagnosed, although laboratory diagnosis based on the measurement of metabolites could be utilized to support clinical suspicion in all symptomatic patients. Moreover, the measurement of enzymatic activities along with a molecular analysis may confirm the diagnosis and are, therefore, crucial for identifying pre-symptomatic carriers. The present review provides an overview of the laboratory assays used most commonly for establishing the diagnosis of porphyria. This would assist the clinicians in prescribing appropriate diagnostic testing and interpreting the testing results. |
| first_indexed | 2024-03-10T08:54:02Z |
| format | Article |
| id | doaj.art-db7b32fcf4784ac1a2fd2d04969b31f8 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T08:54:02Z |
| publishDate | 2021-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-db7b32fcf4784ac1a2fd2d04969b31f82023-11-22T07:19:07ZengMDPI AGDiagnostics2075-44182021-07-01118134310.3390/diagnostics11081343Laboratory Diagnosis of PorphyriaElena Di Pierro0Michele De Canio1Rosa Mercadante2Maria Savino3Francesca Granata4Dario Tavazzi5Anna Maria Nicolli6Andrea Trevisan7Stefano Marchini8Silvia Fustinoni9Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyPorphyria and Rare Diseases Centre, San Gallicano Dermatological Institute IRCCS, 00144 Rome, ItalyEPIGET-Epidemiology, Epigenetics, and Toxicology Lab, Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, ItalyServizio di Medicina Trasfusionale e Laboratorio Analisi, Laboratorio di Immunogenetica, IRCCS Ospedale “Casa Sollievo della Sofferenza”, 71013 San Giovanni Rotondo, ItalyDipartimento di Medicina Interna, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyEPIGET-Epidemiology, Epigenetics, and Toxicology Lab, Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, ItalyDipartimento di Scienze Cardio-Toraco-Vascolari e Sanità Pubblica, Università Degli Studi di Padova, 35121 Padova, ItalyDipartimento di Scienze Cardio-Toraco-Vascolari e Sanità Pubblica, Università Degli Studi di Padova, 35121 Padova, ItalyLaboratorio Malattie Rare-Settore Porfirie, Dipartimento di Scienze Mediche, Chirurgiche, Materno-Infantili e Dell’Adulto, Azienda Ospedaliero-Universitaria Policlinico di Modena, 41125 Modena, ItalyEPIGET-Epidemiology, Epigenetics, and Toxicology Lab, Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, ItalyPorphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. Porphyrias continue to be underdiagnosed, although laboratory diagnosis based on the measurement of metabolites could be utilized to support clinical suspicion in all symptomatic patients. Moreover, the measurement of enzymatic activities along with a molecular analysis may confirm the diagnosis and are, therefore, crucial for identifying pre-symptomatic carriers. The present review provides an overview of the laboratory assays used most commonly for establishing the diagnosis of porphyria. This would assist the clinicians in prescribing appropriate diagnostic testing and interpreting the testing results.https://www.mdpi.com/2075-4418/11/8/1343porphyriaALA (5-aminolevulinic acid)PBG (porphobilinogen)porphyrinsHPLC (high-pressure liquid chromatography)MLPA (multiplex ligation-dependent probe amplification) |
| spellingShingle | Elena Di Pierro Michele De Canio Rosa Mercadante Maria Savino Francesca Granata Dario Tavazzi Anna Maria Nicolli Andrea Trevisan Stefano Marchini Silvia Fustinoni Laboratory Diagnosis of Porphyria Diagnostics porphyria ALA (5-aminolevulinic acid) PBG (porphobilinogen) porphyrins HPLC (high-pressure liquid chromatography) MLPA (multiplex ligation-dependent probe amplification) |
| title | Laboratory Diagnosis of Porphyria |
| title_full | Laboratory Diagnosis of Porphyria |
| title_fullStr | Laboratory Diagnosis of Porphyria |
| title_full_unstemmed | Laboratory Diagnosis of Porphyria |
| title_short | Laboratory Diagnosis of Porphyria |
| title_sort | laboratory diagnosis of porphyria |
| topic | porphyria ALA (5-aminolevulinic acid) PBG (porphobilinogen) porphyrins HPLC (high-pressure liquid chromatography) MLPA (multiplex ligation-dependent probe amplification) |
| url | https://www.mdpi.com/2075-4418/11/8/1343 |
| work_keys_str_mv | AT elenadipierro laboratorydiagnosisofporphyria AT micheledecanio laboratorydiagnosisofporphyria AT rosamercadante laboratorydiagnosisofporphyria AT mariasavino laboratorydiagnosisofporphyria AT francescagranata laboratorydiagnosisofporphyria AT dariotavazzi laboratorydiagnosisofporphyria AT annamarianicolli laboratorydiagnosisofporphyria AT andreatrevisan laboratorydiagnosisofporphyria AT stefanomarchini laboratorydiagnosisofporphyria AT silviafustinoni laboratorydiagnosisofporphyria |