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The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies.
Cell Mol Biol (Noisy-le-grand). 2009 Feb 16; 55(1):61-5.CM

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.

Authors+Show Affiliations

Hospital de Clinicas José de San Martin, University of Buenos Aires Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET Argentina.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19268003

Citation

Granata, B X., et al. "The Very First Description of a Patient With Hepatoerythropoietic Porphyria in Argentina. Biochemical and Molecular Studies." Cellular and Molecular Biology (Noisy-le-Grand, France), vol. 55, no. 1, 2009, pp. 61-5.
Granata BX, Parera VE, Melito VA, et al. The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies. Cell Mol Biol (Noisy-le-grand). 2009;55(1):61-5.
Granata, B. X., Parera, V. E., Melito, V. A., Teijo, M. J., Batlle, A. M., & Rossetti, M. V. (2009). The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies. Cellular and Molecular Biology (Noisy-le-Grand, France), 55(1), 61-5.
Granata BX, et al. The Very First Description of a Patient With Hepatoerythropoietic Porphyria in Argentina. Biochemical and Molecular Studies. Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):61-5. PubMed PMID: 19268003.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies. AU - Granata,B X, AU - Parera,V E, AU - Melito,V A, AU - Teijo,M J, AU - Batlle,A M del C, AU - Rossetti,M V, Y1 - 2009/02/16/ PY - 2008/12/31/received PY - 2009/01/17/accepted PY - 2009/3/10/entrez PY - 2009/3/10/pubmed PY - 2009/6/24/medline SP - 61 EP - 5 JF - Cellular and molecular biology (Noisy-le-Grand, France) JO - Cell. Mol. Biol. (Noisy-le-grand) VL - 55 IS - 1 N2 - 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. SN - 1165-158X UR - https://www.unboundmedicine.com/medline/citation/19268003/The_very_first_description_of_a_patient_with_hepatoerythropoietic_porphyria_in_Argentina__Biochemical_and_molecular_studies_ L2 - http://www.diseaseinfosearch.org/result/3340 DB - PRIME DP - Unbound Medicine ER -