title: An odd case of heteroallelic acute intermittent porphyria in the Argentinean population.
abstract: AIP is an acute liver disorder caused by a deficiency of porphobilinogen deaminase (PBGD) characterized by neuroabdominal symptoms. It is an autosomal dominant disease. However, homozygous dominant AIP (HD-AIP) have been described. In some cases erythrodontia was observed. CEP is an autosomal recessive disease produced by mutations in the uroporphyrinogen III synthase gene (UROS), characterized by severe cutaneous lesions and erythrodontia. The aim of the work was to establish the differential diagnosis of porphyria in a patient with abdominal pain, neurological attacks, skin symptoms and erythrodontia. The PBGD activity was reduced 50% and the genetic analysis indicated the presence of two genetic variants in the PBGD gene, p.G111R and p.E258G, a new genetic variant, revealing a case of heteroallelic HD-AIP. The patient, first diagnosed as a carrier of a dual porphyria: AIP / CEP based on the excretion profile of porphyrins, precursors and her clinical symptoms, would be an atypical case of human HD-AIP. These results would also suggest the presence of a phenocopy of the CEP, induced by an endogenous or exogenous factor. Our findings highlight the importance of genetic studies for a proper diagnosis of porphyria, prevention of its manifestation and its treatment.
authors.affiliation: Hospital de Clinicas-UBA, Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET, Buenos Aires, Argentina.
authors.forename: M B
authors.initials: MB
authors.lastname: Piñeiro Pauwels
authors.forename: E N
authors.initials: EN
authors.lastname: Gerez
authors.forename: M C
authors.initials: MC
authors.lastname: Martinez
authors.forename: V A
authors.initials: VA
authors.lastname: Melito
authors.forename: V E
authors.initials: VE
authors.lastname: Parera
authors.forename: A
authors.initials: A
authors.lastname: Batlle
authors.forename: M V
authors.initials: MV
authors.lastname: Rossetti
mesh_terms: D000208:Acute Disease; D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics* / Q000378:metabolism; D008099:Liver / Q000378:metabolism / Q000473:pathology*; D008969:Molecular Sequence Data; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000097:blood / Q000175:diagnosis* / Q000235:genetics* / Q000652:urine; D011166:Porphyrins / Q000097:blood / Q000652:urine; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics / Q000378:metabolism
chemical_list: D011166:Porphyrins; D011163:Hydroxymethylbilane Synthase; D014576:Uroporphyrinogen III Synthetase