The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies
- Autores
- Granata, Bárbara Xoana; Parera, Victoria Estela; Melito, Viviana Alicia; Teijo, Maria Julieta; Batlle, Alcira María del C.; Rossetti, Maria Victoria
- Año de publicación
- 2009
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. We describe the case of a 14 year-old child with skin manifestations similar to those observed in PCT. The biochemical assays ruled out a CEP as well as they suggested the development of a HEP. Although his symptoms were not severe enough to be HEP, the enzymatic activity was dramatically reduced to a 5% of normal values and the molecular analysis revealed the presence of two already known different mutations on the patient?s URO-D gene, c.703 C>T and IVS9-1. Each parent carry one of the mutations, but they were absent in the brother. This is the first Argentinean HEP case ever described which appeared in a compound heterozygous form and less residual URO-D activity but associated to a mild phenotype.
Fil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Melito, Viviana Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Teijo, Maria Julieta. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Batlle, Alcira María del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina - Materia
-
Hepatoerythropoietic Porphyria
Uroporphyrinogen Decarboxylase
mutations
compound heterozygous - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/147613
Ver los metadatos del registro completo
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The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studiesGranata, Bárbara XoanaParera, Victoria EstelaMelito, Viviana AliciaTeijo, Maria JulietaBatlle, Alcira María del C.Rossetti, Maria VictoriaHepatoerythropoietic PorphyriaUroporphyrinogen Decarboxylasemutationscompound heterozygoushttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. We describe the case of a 14 year-old child with skin manifestations similar to those observed in PCT. The biochemical assays ruled out a CEP as well as they suggested the development of a HEP. Although his symptoms were not severe enough to be HEP, the enzymatic activity was dramatically reduced to a 5% of normal values and the molecular analysis revealed the presence of two already known different mutations on the patient?s URO-D gene, c.703 C>T and IVS9-1. Each parent carry one of the mutations, but they were absent in the brother. This is the first Argentinean HEP case ever described which appeared in a compound heterozygous form and less residual URO-D activity but associated to a mild phenotype.Fil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Melito, Viviana Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Teijo, Maria Julieta. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Batlle, Alcira María del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaC M B Association2009-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/147613Granata, Bárbara Xoana; Parera, Victoria Estela; Melito, Viviana Alicia; Teijo, Maria Julieta; Batlle, Alcira María del C.; et al.; The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies; C M B Association; Cellular and Molecular Biology; 55; 2; 2-2009; 61-650145-5680CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/hdl/https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01455680_v55_n1_p61_Granatainfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:47:26Zoai:ri.conicet.gov.ar:11336/147613instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-22 11:47:26.797CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies |
| title |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies |
| spellingShingle |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies Granata, Bárbara Xoana Hepatoerythropoietic Porphyria Uroporphyrinogen Decarboxylase mutations compound heterozygous |
| title_short |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies |
| title_full |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies |
| title_fullStr |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies |
| title_full_unstemmed |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies |
| title_sort |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies |
| dc.creator.none.fl_str_mv |
Granata, Bárbara Xoana Parera, Victoria Estela Melito, Viviana Alicia Teijo, Maria Julieta Batlle, Alcira María del C. Rossetti, Maria Victoria |
| author |
Granata, Bárbara Xoana |
| author_facet |
Granata, Bárbara Xoana Parera, Victoria Estela Melito, Viviana Alicia Teijo, Maria Julieta Batlle, Alcira María del C. Rossetti, Maria Victoria |
| author_role |
author |
| author2 |
Parera, Victoria Estela Melito, Viviana Alicia Teijo, Maria Julieta Batlle, Alcira María del C. Rossetti, Maria Victoria |
| author2_role |
author author author author author |
| dc.subject.none.fl_str_mv |
Hepatoerythropoietic Porphyria Uroporphyrinogen Decarboxylase mutations compound heterozygous |
| topic |
Hepatoerythropoietic Porphyria Uroporphyrinogen Decarboxylase mutations compound heterozygous |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.3 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. We describe the case of a 14 year-old child with skin manifestations similar to those observed in PCT. The biochemical assays ruled out a CEP as well as they suggested the development of a HEP. Although his symptoms were not severe enough to be HEP, the enzymatic activity was dramatically reduced to a 5% of normal values and the molecular analysis revealed the presence of two already known different mutations on the patient?s URO-D gene, c.703 C>T and IVS9-1. Each parent carry one of the mutations, but they were absent in the brother. This is the first Argentinean HEP case ever described which appeared in a compound heterozygous form and less residual URO-D activity but associated to a mild phenotype. Fil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina Fil: Melito, Viviana Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina Fil: Teijo, Maria Julieta. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina Fil: Batlle, Alcira María del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina |
| description |
Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. We describe the case of a 14 year-old child with skin manifestations similar to those observed in PCT. The biochemical assays ruled out a CEP as well as they suggested the development of a HEP. Although his symptoms were not severe enough to be HEP, the enzymatic activity was dramatically reduced to a 5% of normal values and the molecular analysis revealed the presence of two already known different mutations on the patient?s URO-D gene, c.703 C>T and IVS9-1. Each parent carry one of the mutations, but they were absent in the brother. This is the first Argentinean HEP case ever described which appeared in a compound heterozygous form and less residual URO-D activity but associated to a mild phenotype. |
| publishDate |
2009 |
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2009-02 |
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http://hdl.handle.net/11336/147613 Granata, Bárbara Xoana; Parera, Victoria Estela; Melito, Viviana Alicia; Teijo, Maria Julieta; Batlle, Alcira María del C.; et al.; The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies; C M B Association; Cellular and Molecular Biology; 55; 2; 2-2009; 61-65 0145-5680 CONICET Digital CONICET |
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http://hdl.handle.net/11336/147613 |
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Granata, Bárbara Xoana; Parera, Victoria Estela; Melito, Viviana Alicia; Teijo, Maria Julieta; Batlle, Alcira María del C.; et al.; The very first description of a patient with hepatoerythropoietic porphyria in Argentina: Biochemical and molecular studies; C M B Association; Cellular and Molecular Biology; 55; 2; 2-2009; 61-65 0145-5680 CONICET Digital CONICET |
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eng |
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