Acute porphyrias in the Argentinean population: a review.
The porphyrias are a group of inherited metabolic disorders of heme biosynthesis which result from a partial deficiency in one of its seven specific enzymes, after its first and rate limiting enzyme, delta-aminolevulinic acid synthetase. They can be classified on the basis of their clinical manifest...
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2003
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| Acceso en línea: | http://hdl.handle.net/20.500.12110/paper_01455680_v49_n4_p493_Parera https://repositoriouba.sisbi.uba.ar/gsdl/cgi-bin/library.cgi?a=d&c=artiaex&d=paper_01455680_v49_n4_p493_Parera_oai |
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I28-R145-paper_01455680_v49_n4_p493_Parera_oai2024-08-16 Parera, V.E. De Siervi, A. Varela, L. Rossetti, M.V. Batlle, A.M. 2003 The porphyrias are a group of inherited metabolic disorders of heme biosynthesis which result from a partial deficiency in one of its seven specific enzymes, after its first and rate limiting enzyme, delta-aminolevulinic acid synthetase. They can be classified on the basis of their clinical manifestations into cutaneous, acute and mixed disorders. Acute intermittent porphyria (AIP) is the most common type of hepatic acute porphyrias, inherited as an autosomal dominant trait, caused by a defect in the gene which codifies for the heme enzyme porphobilinogen deaminase. Its prevalence in the Argentinean population is about 1:125,000. A partial deficiency in another enzyme, protoporphyrinogen oxidase, produces variegate porphyria (VP), the second acute porphyria most frequent in the Argentinean population (1:600,000). Here, we review all the mutations we have found in 46 AIP and 9 VP unrelated Argentinean patients. To screen for mutations in symptomatic patients, we have proposed a geneticresearch strategy. Fil:Parera, V.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:De Siervi, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Rossetti, M.V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Batlle, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. application/pdf http://hdl.handle.net/20.500.12110/paper_01455680_v49_n4_p493_Parera info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar Cell. Mol. Biol. (Noisy-le-grand) 2003;49(4):493-500 acute intermittent porphyria Argentina genetics hepatic porphyria human metabolism mutation review Argentina Humans Mutation Porphyria, Acute Intermittent Porphyrias, Hepatic Acute porphyrias in the Argentinean population: a review. info:eu-repo/semantics/article info:ar-repo/semantics/artículo info:eu-repo/semantics/publishedVersion https://repositoriouba.sisbi.uba.ar/gsdl/cgi-bin/library.cgi?a=d&c=artiaex&d=paper_01455680_v49_n4_p493_Parera_oai |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-145 |
| collection |
Repositorio Digital de la Universidad de Buenos Aires (UBA) |
| topic |
acute intermittent porphyria Argentina genetics hepatic porphyria human metabolism mutation review Argentina Humans Mutation Porphyria, Acute Intermittent Porphyrias, Hepatic |
| spellingShingle |
acute intermittent porphyria Argentina genetics hepatic porphyria human metabolism mutation review Argentina Humans Mutation Porphyria, Acute Intermittent Porphyrias, Hepatic Parera, V.E. De Siervi, A. Varela, L. Rossetti, M.V. Batlle, A.M. Acute porphyrias in the Argentinean population: a review. |
| topic_facet |
acute intermittent porphyria Argentina genetics hepatic porphyria human metabolism mutation review Argentina Humans Mutation Porphyria, Acute Intermittent Porphyrias, Hepatic |
| description |
The porphyrias are a group of inherited metabolic disorders of heme biosynthesis which result from a partial deficiency in one of its seven specific enzymes, after its first and rate limiting enzyme, delta-aminolevulinic acid synthetase. They can be classified on the basis of their clinical manifestations into cutaneous, acute and mixed disorders. Acute intermittent porphyria (AIP) is the most common type of hepatic acute porphyrias, inherited as an autosomal dominant trait, caused by a defect in the gene which codifies for the heme enzyme porphobilinogen deaminase. Its prevalence in the Argentinean population is about 1:125,000. A partial deficiency in another enzyme, protoporphyrinogen oxidase, produces variegate porphyria (VP), the second acute porphyria most frequent in the Argentinean population (1:600,000). Here, we review all the mutations we have found in 46 AIP and 9 VP unrelated Argentinean patients. To screen for mutations in symptomatic patients, we have proposed a geneticresearch strategy. |
| format |
Artículo Artículo publishedVersion |
| author |
Parera, V.E. De Siervi, A. Varela, L. Rossetti, M.V. Batlle, A.M. |
| author_facet |
Parera, V.E. De Siervi, A. Varela, L. Rossetti, M.V. Batlle, A.M. |
| author_sort |
Parera, V.E. |
| title |
Acute porphyrias in the Argentinean population: a review. |
| title_short |
Acute porphyrias in the Argentinean population: a review. |
| title_full |
Acute porphyrias in the Argentinean population: a review. |
| title_fullStr |
Acute porphyrias in the Argentinean population: a review. |
| title_full_unstemmed |
Acute porphyrias in the Argentinean population: a review. |
| title_sort |
acute porphyrias in the argentinean population: a review. |
| publishDate |
2003 |
| url |
http://hdl.handle.net/20.500.12110/paper_01455680_v49_n4_p493_Parera https://repositoriouba.sisbi.uba.ar/gsdl/cgi-bin/library.cgi?a=d&c=artiaex&d=paper_01455680_v49_n4_p493_Parera_oai |
| work_keys_str_mv |
AT parerave acuteporphyriasintheargentineanpopulationareview AT desiervia acuteporphyriasintheargentineanpopulationareview AT varelal acuteporphyriasintheargentineanpopulationareview AT rossettimv acuteporphyriasintheargentineanpopulationareview AT batlleam acuteporphyriasintheargentineanpopulationareview |
| _version_ |
1809357214836588544 |