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Abstract:

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. Copyright © 2009 C.M.B. Edition.

Registro:

Documento: Artículo
Título:The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies
Autor:Granata, B.X.; Parera, V.E.; Melito, V.A.; Teijo, M.J.; Batlle, A.M.D.C.; Rossetti, M.V.
Filiación:Centro de Investigaciones Sobre Porfirinas Y Porfirias (CIPYP), CONICET, Hospital de Clínicas, Buenos Aires, Argentina
Facultad de Ciencias Exactas Y Naturales, University of Buenos Aires, Argentina
Juan F. Segui 3942, 10 A, Buenos Aires (1425), Argentina
Palabras clave:Compound heterozygous; Hepatoerythropoietic porphyria; Mutations; Uroporphyrinogen decarboxylase; magnesium ion; uroporphyrinogen decarboxylase; adolescent; anamnesis; Argentina; article; case report; chemical analysis; clinical feature; congenital erythropoietic porphyria; enzyme activity; enzyme assay; exon; genetic analysis; hepatoerythropoietic porphyria; heterozygosity; heterozygote detection; human; male; molecular biology; point mutation; porphyria cutanea tarda; skin manifestation; Adolescent; Argentina; DNA Mutational Analysis; Humans; Male; Polymerase Chain Reaction; Porphyria, Hepatoerythropoietic; Uroporphyrinogen Decarboxylase
Año:2009
Volumen:55
Número:1
Página de inicio:61
Página de fin:65
DOI: http://dx.doi.org/10.1170/T839
Título revista:Cellular and Molecular Biology
Título revista abreviado:Cell. Mol. Biol.
ISSN:01455680
CODEN:CMBID
CAS:magnesium ion, 22537-22-0; uroporphyrinogen decarboxylase, 9024-70-8; Uroporphyrinogen Decarboxylase, 4.1.1.37
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01455680_v55_n1_p61_Granata

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Citas:

---------- APA ----------
Granata, B.X., Parera, V.E., Melito, V.A., Teijo, M.J., Batlle, A.M.D.C. & Rossetti, M.V. (2009) . The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies. Cellular and Molecular Biology, 55(1), 61-65.
http://dx.doi.org/10.1170/T839
---------- CHICAGO ----------
Granata, B.X., Parera, V.E., Melito, V.A., Teijo, M.J., Batlle, A.M.D.C., Rossetti, M.V. "The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies" . Cellular and Molecular Biology 55, no. 1 (2009) : 61-65.
http://dx.doi.org/10.1170/T839
---------- MLA ----------
Granata, B.X., Parera, V.E., Melito, V.A., Teijo, M.J., Batlle, A.M.D.C., Rossetti, M.V. "The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies" . Cellular and Molecular Biology, vol. 55, no. 1, 2009, pp. 61-65.
http://dx.doi.org/10.1170/T839
---------- VANCOUVER ----------
Granata, B.X., Parera, V.E., Melito, V.A., Teijo, M.J., Batlle, A.M.D.C., Rossetti, M.V. The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies. Cell. Mol. Biol. 2009;55(1):61-65.
http://dx.doi.org/10.1170/T839