title: The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies.
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.affiliation: Hospital de Clinicas José de San Martin, University of Buenos Aires Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET Argentina.
authors.forename: B X
authors.initials: BX
authors.lastname: Granata
authors.forename: V E
authors.initials: VE
authors.lastname: Parera
authors.forename: V A
authors.initials: VA
authors.lastname: Melito
authors.forename: M J
authors.initials: MJ
authors.lastname: Teijo
authors.forename: A M del C
authors.initials: AM
authors.lastname: Batlle
authors.forename: M V
authors.initials: MV
authors.lastname: Rossetti
mesh_terms: D000293:Adolescent; D001118:Argentina; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D017121:Porphyria, Hepatoerythropoietic / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000652:urine; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics
chemical_list: D014575:Uroporphyrinogen Decarboxylase