Acute porphyrias in the Argentinean population: a review.

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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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Autores principales: Parera, V.E., De Siervi, A., Varela, L., Rossetti, M.V., Batlle, A.M.
Formato: JOUR
Materias:
acute intermittent porphyria
Argentina
genetics
hepatic porphyria
human
metabolism
mutation
review
Humans
Mutation
Porphyria, Acute Intermittent
Porphyrias, Hepatic
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_01455680_v49_n4_p493_Parera
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Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires
id todo:paper_01455680_v49_n4_p493_Parera
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spelling todo:paper_01455680_v49_n4_p493_Parera2023-10-03T15:00:04Z Acute porphyrias in the Argentinean population: a review. Parera, V.E. De Siervi, A. Varela, L. Rossetti, M.V. Batlle, A.M. acute intermittent porphyria Argentina genetics hepatic porphyria human metabolism mutation review Argentina Humans Mutation Porphyria, Acute Intermittent Porphyrias, Hepatic 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. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_01455680_v49_n4_p493_Parera
institution Universidad de Buenos Aires
institution_str I-28
repository_str R-134
collection Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (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 JOUR
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.
url http://hdl.handle.net/20.500.12110/paper_01455680_v49_n4_p493_Parera
work_keys_str_mv AT parerave acuteporphyriasintheargentineanpopulationareview
AT desiervia acuteporphyriasintheargentineanpopulationareview
AT varelal acuteporphyriasintheargentineanpopulationareview
AT rossettimv acuteporphyriasintheargentineanpopulationareview
AT batlleam acuteporphyriasintheargentineanpopulationareview
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