Porphyrins profile by high performance liquid chromatography electrospray ionization tandem mass spectrometry for the diagnosis of porphyria
Joint Authors
Rajab, L.
Fatin, E.
Abd al-Fattah, A.
Jawdah, A.
Nazim, w.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 12, Issue 1 (30 Jun. 2011), pp.49-58, 10 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2011-06-30
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Topics
Abstract EN
Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway.
Most porphyria symptoms are nonspecific and occur intermittently; resulting frequently in missed diagnosis since the disease itself is a rare one.
The aim of the study is to establish a new reliable and accurate laboratory method for separation, identification and quantitation of urinary porphyrins by liquid chromatography tandem mass spectrometry (LC / MS / MS) \ and thereby the diagnosis of different porphyria types for the first time in Egypt.
Screening by plasma fluorescence and quantitative determination of urinary porphyrins by high performance liquid chromatography electrospray ionization tandem mass spectrometry (HPLC / ESI / MS / MS) of 50 clinically suspected patients revealed one case of variegate porphyria and five cases of porphyria cutanea tarda.
Plasma fluorescence scanning is a simple procedure that can be used as screening test to detect porphyria patients that require quantitation of urinary porphyrins as a second step.
Quantitative determination of urinary porphyrins using HPLC / ESI / MS / MS and ion mapping techn ques are applicable for the differential diagnosis of porphyria types, since each type has a characteristic porphyrins excretion profile.
Quantitative determination of urinary porphyrins by HPLC / ESI / MS / MS used in this study is a modification for the method Stoev et al.
while ion mapping technique is a new technique invented by the research team at the Biochemical Genetics Department.
American Psychological Association (APA)
Fatin, E.& Abd al-Fattah, A.& Jawdah, A.& Rajab, L.& Nazim, w.. 2011. Porphyrins profile by high performance liquid chromatography electrospray ionization tandem mass spectrometry for the diagnosis of porphyria. The Egyptian Journal of Medical Human Genetics،Vol. 12, no. 1, pp.49-58.
https://search.emarefa.net/detail/BIM-380193
Modern Language Association (MLA)
Fatin, E.…[et al.]. Porphyrins profile by high performance liquid chromatography electrospray ionization tandem mass spectrometry for the diagnosis of porphyria. The Egyptian Journal of Medical Human Genetics Vol. 12, no. 1 (2011), pp.49-58.
https://search.emarefa.net/detail/BIM-380193
American Medical Association (AMA)
Fatin, E.& Abd al-Fattah, A.& Jawdah, A.& Rajab, L.& Nazim, w.. Porphyrins profile by high performance liquid chromatography electrospray ionization tandem mass spectrometry for the diagnosis of porphyria. The Egyptian Journal of Medical Human Genetics. 2011. Vol. 12, no. 1, pp.49-58.
https://search.emarefa.net/detail/BIM-380193
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 57-58
Record ID
BIM-380193