19-year-old female with abdominal pain
Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme. Many symptoms of porphyria are nonspecific and therefo...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Amaltea Medical Publishing House
2013-03-01
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| Series: | Romanian Journal of Neurology |
| Subjects: | |
| Online Access: | https://rjn.com.ro/articles/2013.1/RJN_2013_1_Art-04.pdf |
| _version_ | 1798021079463100416 |
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| author | Ioan Buraga Adrian-Florin Dobrescu |
| author_facet | Ioan Buraga Adrian-Florin Dobrescu |
| author_sort | Ioan Buraga |
| collection | DOAJ |
| description | Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme. Many symptoms of porphyria are nonspecific and therefore the diagnosis is often delayed. Laboratory tests can confirm or exclude the diagnosis of porphyria. However, certain diagnosis requires demonstration of specific enzyme deficiency. The presented case demonstrates the difficulty in diagnosis of acute intermittent porphyria (AIP) in a young woman without a history of significant pathology. |
| first_indexed | 2024-04-11T17:08:11Z |
| format | Article |
| id | doaj.art-839c1961109741b8ac367d770c08515b |
| institution | Directory Open Access Journal |
| issn | 1843-8148 2069-6094 |
| language | English |
| last_indexed | 2024-04-11T17:08:11Z |
| publishDate | 2013-03-01 |
| publisher | Amaltea Medical Publishing House |
| record_format | Article |
| series | Romanian Journal of Neurology |
| spelling | doaj.art-839c1961109741b8ac367d770c08515b2022-12-22T04:12:59ZengAmaltea Medical Publishing HouseRomanian Journal of Neurology1843-81482069-60942013-03-01121303610.37897/RJN.2013.1.419-year-old female with abdominal painIoan Buraga0Adrian-Florin Dobrescu1Department of Neurology, Colentina Clinical Hospital, Bucharest; “Carol Davila” University of Medicine and Pharmacy, BucharestDepartment of Neurology, Colentina Clinical Hospital, BucharestPorphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme. Many symptoms of porphyria are nonspecific and therefore the diagnosis is often delayed. Laboratory tests can confirm or exclude the diagnosis of porphyria. However, certain diagnosis requires demonstration of specific enzyme deficiency. The presented case demonstrates the difficulty in diagnosis of acute intermittent porphyria (AIP) in a young woman without a history of significant pathology.https://rjn.com.ro/articles/2013.1/RJN_2013_1_Art-04.pdfabdominal painneurological defi citporfobilinogen |
| spellingShingle | Ioan Buraga Adrian-Florin Dobrescu 19-year-old female with abdominal pain Romanian Journal of Neurology abdominal pain neurological defi cit porfobilinogen |
| title | 19-year-old female with abdominal pain |
| title_full | 19-year-old female with abdominal pain |
| title_fullStr | 19-year-old female with abdominal pain |
| title_full_unstemmed | 19-year-old female with abdominal pain |
| title_short | 19-year-old female with abdominal pain |
| title_sort | 19 year old female with abdominal pain |
| topic | abdominal pain neurological defi cit porfobilinogen |
| url | https://rjn.com.ro/articles/2013.1/RJN_2013_1_Art-04.pdf |
| work_keys_str_mv | AT ioanburaga 19yearoldfemalewithabdominalpain AT adrianflorindobrescu 19yearoldfemalewithabdominalpain |