TY - JOUR
T1 - Laboratory diagnosis of porphyria
AU - Di Pierro, Elena
AU - De Canio, Michele
AU - Mercadante, Rosa
AU - Savino, Maria
AU - Granata, Francesca
AU - Tavazzi, Dario
AU - Nicolli, Anna Maria
AU - Trevisan, Andrea
AU - Marchini, Stefano
AU - Fustinoni, Silvia
N1 - Funding Information:
The authors are grateful to all patients and their families who donate samples for fundamental and clinical research in order to improve knowledge of pathophysiology of these rare diseases. We also thank Luigi Flaminio Ghilardini for graphic assistance.
Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2021/8
Y1 - 2021/8
N2 - 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 presymptomatic 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.
AB - 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 presymptomatic 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.
KW - ALA (5-aminolevulinic acid)
KW - Diagnosis
KW - EPNET (European Porphyria Network)
KW - HPLC (high-pressure liquid chromatography)
KW - MLPA (Multiplex Ligation-Dependent Probe Amplification)
KW - NGS (Next-Generation Sequencing)
KW - PBG (porphobilinogen)
KW - Porphyria
KW - Porphyrins
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U2 - 10.3390/diagnostics11081343
DO - 10.3390/diagnostics11081343
M3 - Review article
AN - SCOPUS:85111668061
VL - 11
JO - Diagnostics
JF - Diagnostics
SN - 2075-4418
IS - 8
M1 - 1343
ER -